3-52813660-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813660
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813660
    reference: chr 3
allele count: 1
allele frequency: 8.498053945646446e-6
allele num: 117674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+50T>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+50T>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+50T>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.623T>G
  hgvsp: ENSP00000417340.1:p.Met208Arg
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met208Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-52813666-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813666
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813666
    reference: chr 3
allele count: 1
allele frequency: 8.60229853416833e-6
allele num: 116248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+56C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+56C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.629C>A
  hgvsp: ENSP00000417340.1:p.Pro210His
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+56C>A
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27010
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro210His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-52813666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813666
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813666
    reference: chr 3
allele count: 1
allele frequency: 8.60229853416833e-6
allele num: 116248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+56C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.629C>T
  hgvsp: ENSP00000417340.1:p.Pro210Leu
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+56C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+56C>T
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 37416
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro210Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-52813676-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813676
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813676
    reference: chr 3
allele count: 1
allele frequency: 8.836576356856299e-6
allele num: 113166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+66T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+66T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+66T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.639T>C
  hgvsp: ENST00000480409.1:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1284
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly213Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-52813682-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813682
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813682
    reference: chr 3
allele count: 1
allele frequency: 8.98876404494382e-6
allele num: 111250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+72A>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+72A>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*3A>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+72A>T
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-52813690-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813690
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813690
    reference: chr 3
allele count: 1
allele frequency: 9.161368341975557e-6
allele num: 109154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+80T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*11T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+80T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+80T>C
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
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genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 694
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 196
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genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-52813691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813691
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813691
    reference: chr 3
allele count: 1
allele frequency: 9.190669632189402e-6
allele num: 108806
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+81G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+81G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+81G>A
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14090
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 824
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-52813693-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813693
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813693
    reference: chr 3
allele count: 4
allele frequency: 3.696516033638296e-5
allele num: 108210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+83G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+83G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*14G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+83G>T
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  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: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3804
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

3-52813699-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813699
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813699
    reference: chr 3
allele count: 1
allele frequency: 9.426492213717431e-6
allele num: 106084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*20A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+89A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+89A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+89A>G
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6058
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

3-52813701-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813701
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813701
    reference: chr 3
allele count: 3008
allele frequency: 2.852536747273589e-2
allele num: 105450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*22C>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+91C>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+91C>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+91C>G
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 7.5e0
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 2.25e1
  variant carriers: 694
genotype depth: GenotypeDepth
  all individuals: 11693
  bin: 2.75e1
  variant carriers: 493
genotype depth: GenotypeDepth
  all individuals: 18193
  bin: 1.25e1
  variant carriers: 389
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 1.75e1
  variant carriers: 648
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 3.25e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 14556
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 6.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 9.75e1
  variant carriers: 2911
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 15767
  bin: 6.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6140
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.75e1
  variant carriers: 11
num of homozygotes: 43
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-52813702-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813702
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813702
    reference: chr 3
allele count: 57
allele frequency: 5.439969459820576e-4
allele num: 104780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*23C>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+92C>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+92C>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+92C>G
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11411
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18948
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 9.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16053
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4098
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

3-52813708-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813708
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813708
    reference: chr 3
allele count: 1
allele frequency: 9.717606359201602e-6
allele num: 102906
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+98T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*29T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+98T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+98T>C
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-52813715-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813715
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813715
    reference: chr 3
allele count: 1
allele frequency: 9.944905225053206e-6
allele num: 100554
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+105A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+105A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+105A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*36A>G
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19276
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6470
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-52813720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813720
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813720
    reference: chr 3
allele count: 1
allele frequency: 1.023394805247969e-5
allele num: 97714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+110G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+110G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+110G>A
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18501
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12675
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1077
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genotype quality: GenotypeQuality
  all individuals: 6727
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5402
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-52813723-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52813723
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52813723
    reference: chr 3
allele count: 2
allele frequency: 2.078310749023194e-5
allele num: 96232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*44G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.573+113G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.573+113G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.147+113G>T
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18175
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14632
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6802
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-52814237-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814237
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814237
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 38054
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-48A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.105A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-48A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-48A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-48A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-48A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-48A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-48A>G
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 28993
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  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: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  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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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7612
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18121
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

3-52814247-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814247
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814248
    reference: chr 3
allele count: 32
allele frequency: 5.805304597075578e-4
allele num: 55122
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.124dupT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-29dupT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-29dupT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-29dupT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-29dupT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-29dupT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-29dupT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-29dupT
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23587
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18090
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6154
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11621
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-52814247-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814247
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814246
    reference: chr 3
allele count: 29
allele frequency: 5.261057291099742e-4
allele num: 55122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-29delT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-29delT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-29delT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-29delT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-29delT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-29delT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.124delT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-29delT
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18090
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23587
  bin: 7.5e0
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 2.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 11621
  bin: 2.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 2.5e0
  variant carriers: 153
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5018
  bin: 7.5e0
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 1.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: CT
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

3-52814247-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814247
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814245
    reference: chr 3
allele count: 3
allele frequency: 5.442473059758354e-5
allele num: 55122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-30_574-29delTT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-30_60-29delTT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-30_148-29delTT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-30_574-29delTT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-30_174-29delTT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.123_124delTT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-30_*215-29delTT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-30_-291-29delTT
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23587
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18090
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11621
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5018
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: CTT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-52814254-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814254
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814254
    reference: chr 3
allele count: 3
allele frequency: 4.356159609688099e-5
allele num: 68868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-31T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.122T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-31T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-31T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-31T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-31T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-31T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-31T>A
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18460
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-52814255-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814255
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814255
    reference: chr 3
allele count: 5113
allele frequency: 7.503668916935721e-2
allele num: 68140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-30T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-30T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-30T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-30T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-30T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-30T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.123T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-30T>A
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 2.5e0
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 1.75e1
  variant carriers: 1283
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 18422
  bin: 1.25e1
  variant carriers: 2790
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 21962
  bin: 7.5e0
  variant carriers: 2072
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.25e1
  variant carriers: 450
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 6840
  bin: 3.25e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.75e1
  variant carriers: 166
genotype quality: GenotypeQuality
  all individuals: 5275
  bin: 9.75e1
  variant carriers: 4298
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 2.75e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 4.25e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 17790
  bin: 2.25e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 7.5e0
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.25e1
  variant carriers: 99
num of homozygotes: 204
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-52814255-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814255
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814256
    reference: chr 3
allele count: 1
allele frequency: 1.46756677428823e-5
allele num: 68140
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-30_*215-29insA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-30_60-29insA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-30_-291-29insA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-30_174-29insA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.123_124insA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-30_148-29insA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-30_574-29insA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-30_574-29insA
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18422
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21962
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.5e0
  variant carriers: 3
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

3-52814256-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814256
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814256
    reference: chr 3
allele count: 30755
allele frequency: 4.716301180800491e-1
allele num: 65210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-29T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.124T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-29T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-29T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-29T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-29T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-29T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-29T>A
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 22637
  bin: 7.5e0
  variant carriers: 12362
genotype depth: GenotypeDepth
  all individuals: 18799
  bin: 1.25e1
  variant carriers: 14240
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.75e1
  variant carriers: 801
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 1.75e1
  variant carriers: 6499
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.5e0
  variant carriers: 1515
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 2229
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 894
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 1.75e1
  variant carriers: 1888
genotype quality: GenotypeQuality
  all individuals: 17595
  bin: 9.75e1
  variant carriers: 17046
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 1507
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 2.5e0
  variant carriers: 502
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 1561
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 424
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 841
num of homozygotes: 6290
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-52814256-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814256
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814257
    reference: chr 3
allele count: 568
allele frequency: 8.710320502990339e-3
allele num: 65210
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-22dupA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-22dupA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-22dupA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-22dupA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-22dupA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.131dupA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-22dupA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-22dupA
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22637
  bin: 7.5e0
  variant carriers: 804
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18799
  bin: 1.25e1
  variant carriers: 460
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 1.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.5e0
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 10608
  bin: 2.25e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 3.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 2.5e0
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 4.75e1
  variant carriers: 96
num of homozygotes: 6
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-52814256-T-TAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814256
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814258
    reference: chr 3
allele count: 83
allele frequency: 1.272810918570771e-3
allele num: 65210
alternate allele: TAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-23_-291-22dupAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-23_*215-22dupAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-23_60-22dupAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-23_174-22dupAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-23_574-22dupAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.130_131dupAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-23_148-22dupAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-23_574-22dupAA
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22637
  bin: 7.5e0
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18799
  bin: 1.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 2.5e0
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 17595
  bin: 9.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 5.25e1
  variant carriers: 7
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-52814256-T-TAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814256
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814259
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 65210
alternate allele: TAAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-24_60-22dupAAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-24_*215-22dupAAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-24_174-22dupAAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-24_-291-22dupAAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-24_148-22dupAAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-24_574-22dupAAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.129_131dupAAA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-24_574-22dupAAA
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 18799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22637
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

3-52814256-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814256
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814255
    reference: chr 3
allele count: 22
allele frequency: 3.373715687777948e-4
allele num: 65210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-22delA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.131delA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-22delA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-22delA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-22delA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-22delA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-22delA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-22delA
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18799
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 22637
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10608
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: TA
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

3-52814257-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814257
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814257
    reference: chr 3
allele count: 778
allele frequency: 9.393412537428765e-3
allele num: 82824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-28A>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-28A>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.125A>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-28A>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-28A>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-28A>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-28A>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-28A>T
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 2.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12083
  bin: 1.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15401
  bin: 7.5e0
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 17561
  bin: 1.25e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 6.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6961
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 5.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 12598
  bin: 2.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 10
num of homozygotes: 4
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/3-52814260-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814260
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814260
    reference: chr 3
allele count: 1
allele frequency: 1.147657630775587e-5
allele num: 87134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.128A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-25A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-25A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-25A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-25A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-25A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-25A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-25A>C
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4752
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

3-52814264-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814264
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814264
    reference: chr 3
allele count: 2
allele frequency: 2.259223279036667e-5
allele num: 88526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.132T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-21T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-21T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-21T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-21T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-21T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-21T>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-21T>A
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3884
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-52814269-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814269
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814269
    reference: chr 3
allele count: 2141
allele frequency: 2.287539799559801e-2
allele num: 93594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-16T>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-16T>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-16T>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-16T>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-16T>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-16T>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.137T>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-16T>G
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 1.25e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 23148
  bin: 2.25e1
  variant carriers: 429
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 528
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.75e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 13194
  bin: 7.5e0
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 24092
  bin: 6.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 3.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 4
num of homozygotes: 206
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-52814271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814271
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814271
    reference: chr 3
allele count: 1
allele frequency: 1.040820999604488e-5
allele num: 96078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.148-14C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*215-14C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-291-14C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.60-14C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.174-14C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.574-14C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.139C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.574-14C>T
  variant of: http://identifiers.org/hgnc/6166
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/3-52814289-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814289
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814289
    reference: chr 3
allele count: 1
allele frequency: 8.85065406333528e-6
allele num: 112986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.157A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.64A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*219A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.578A>C
  hgvsp: ENSP00000442584.1:p.Asp193Ala
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.578A>C
  hgvsp: ENSP00000273283.2:p.Asp193Ala
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.152A>C
  hgvsp: ENSP00000443973.1:p.Asp51Ala
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-287A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.178A>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47441
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp193Ala
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

3-52814292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814292
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814292
    reference: chr 3
allele count: 4
allele frequency: 3.509880313081324e-5
allele num: 113964
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.581T>C
  hgvsp: ENSP00000273283.2:p.Val194Ala
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.160T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.155T>C
  hgvsp: ENSP00000443973.1:p.Val52Ala
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-284T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.67T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.581T>C
  hgvsp: ENSP00000442584.1:p.Val194Ala
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*222T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.181T>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44235
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val194Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-52814294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814294
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814294
    reference: chr 3
allele count: 8
allele frequency: 6.992273537740796e-5
allele num: 114412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.69G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.583G>A
  hgvsp: ENSP00000442584.1:p.Asp195Asn
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-282G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*224G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.583G>A
  hgvsp: ENSP00000273283.2:p.Asp195Asn
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.183G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.157G>A
  hgvsp: ENSP00000443973.1:p.Asp53Asn
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.162G>A
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp195Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-52814298-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814298
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814298
    reference: chr 3
allele count: 16
allele frequency: 1.38501757241045e-4
allele num: 115522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.73T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.161T>C
  hgvsp: ENSP00000443973.1:p.Ile54Thr
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-278T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.587T>C
  hgvsp: ENSP00000273283.2:p.Ile196Thr
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.187T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.587T>C
  hgvsp: ENSP00000442584.1:p.Ile196Thr
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.166T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*228T>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44750
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile196Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/3-52814302-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814302
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814302
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 116408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.591C>A
  hgvsp: ENSP00000442584.1:p.Phe197Leu
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-274C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.191C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.170C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.165C>A
  hgvsp: ENSP00000443973.1:p.Phe55Leu
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.591C>A
  hgvsp: ENSP00000273283.2:p.Phe197Leu
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.77C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*232C>A
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 44900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe197Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

3-52814302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814302
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814302
    reference: chr 3
allele count: 41
allele frequency: 3.522094701395093e-4
allele num: 116408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.170C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.591C>T
  hgvsp: ENST00000273283.2:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-274C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.591C>T
  hgvsp: ENST00000542827.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*232C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.165C>T
  hgvsp: ENST00000540715.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.77C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.191C>T
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 44900
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe197Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/3-52814317-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814317
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814317
    reference: chr 3
allele count: 1
allele frequency: 8.426019548365353e-6
allele num: 118680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.92C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.185C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*247C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.606C>A
  hgvsp: ENST00000273283.2:c.606C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.606C>A
  hgvsp: ENST00000542827.1:c.606C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.206C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-259C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.180C>A
  hgvsp: ENST00000540715.1:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile202Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-52814322-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814322
    reference: chr 3
allele count: 2
allele frequency: 1.683246646131057e-5
allele num: 118818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*252A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.190A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.97A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.185A>G
  hgvsp: ENSP00000443973.1:p.Lys62Arg
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.611A>G
  hgvsp: ENSP00000273283.2:p.Lys204Arg
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.611A>G
  hgvsp: ENSP00000442584.1:p.Lys204Arg
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.211A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-254A>G
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3817
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys204Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-52814324-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814324
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814324
    reference: chr 3
allele count: 1
allele frequency: 8.414816809438059e-6
allele num: 118838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.213C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.192C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-252C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*254C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.613C>A
  hgvsp: ENSP00000273283.2:p.Leu205Met
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.613C>A
  hgvsp: ENSP00000442584.1:p.Leu205Met
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.99C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.187C>A
  hgvsp: ENSP00000443973.1:p.Leu63Met
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu205Met
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-52814331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814331
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814331
    reference: chr 3
allele count: 1
allele frequency: 8.414958430105355e-6
allele num: 118836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.620C>T
  hgvsp: ENSP00000442584.1:p.Ala207Val
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.220C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.199C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.620C>T
  hgvsp: ENSP00000273283.2:p.Ala207Val
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*261C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.194C>T
  hgvsp: ENSP00000443973.1:p.Ala65Val
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.106C>T
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala207Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-52814349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814349
    reference: chr 3
allele count: 5
allele frequency: 4.240234739395173e-5
allele num: 117918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.238C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.124C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.638C>T
  hgvsp: ENSP00000442584.1:p.Pro213Leu
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.217C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-227C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*279C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.212C>T
  hgvsp: ENSP00000443973.1:p.Pro71Leu
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.638C>T
  hgvsp: ENSP00000273283.2:p.Pro213Leu
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro213Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

3-52814350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814350
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814350
    reference: chr 3
allele count: 2
allele frequency: 1.697821694765616e-5
allele num: 117798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.213G>A
  hgvsp: ENST00000540715.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*280G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.218G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.239G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-226G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.639G>A
  hgvsp: ENST00000273283.2:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.639G>A
  hgvsp: ENST00000542827.1:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.125G>A
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro213Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

3-52814365-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814365
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814365
    reference: chr 3
allele count: 1
allele frequency: 8.58251227299255e-6
allele num: 116516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.254C>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.233C>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.654C>G
  hgvsp: ENST00000542827.1:c.654C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.654C>G
  hgvsp: ENST00000273283.2:c.654C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-211C>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*295C>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.228C>G
  hgvsp: ENST00000540715.1:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.140C>G
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala218Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-52814366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814366
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814366
    reference: chr 3
allele count: 2
allele frequency: 1.721792730591091e-5
allele num: 116158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.655C>T
  hgvsp: ENSP00000442584.1:p.Gln219Ter
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.234C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.655C>T
  hgvsp: ENSP00000273283.2:p.Gln219Ter
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*296C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.229C>T
  hgvsp: ENSP00000443973.1:p.Gln77Ter
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.255C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.141C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-210C>T
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln219Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

3-52814376-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814376
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814376
    reference: chr 3
allele count: 2
allele frequency: 1.754293633668404e-5
allele num: 114006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.665A>G
  hgvsp: ENSP00000442584.1:p.Lys222Arg
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-200A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.665A>G
  hgvsp: ENSP00000273283.2:p.Lys222Arg
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.151A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*306A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.239A>G
  hgvsp: ENSP00000443973.1:p.Lys80Arg
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.265A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.244A>G
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys222Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-52814379-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814379
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814379
    reference: chr 3
allele count: 1
allele frequency: 8.888256835069507e-6
allele num: 112508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.242A>C
  hgvsp: ENSP00000443973.1:p.Lys81Thr
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.154A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.668A>C
  hgvsp: ENSP00000442584.1:p.Lys223Thr
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  hgvsc: ENST00000480409.1:c.*309A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.247A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.668A>C
  hgvsp: ENSP00000273283.2:p.Lys223Thr
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.268A>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-197A>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys223Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-52814382-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814382
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814379
    reference: chr 3
allele count: 1
allele frequency: 8.925543119298809e-6
allele num: 112038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-191_-189delTCT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.674_676delTCT
  hgvsp: ENSP00000273283.2:p.Phe225del
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.253_255delTCT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.674_676delTCT
  hgvsp: ENSP00000442584.1:p.Phe225del
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000417340
  ensembl transcript: ENST00000480409
  gene symbol: ITIH1
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.274_276delTCT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.160_162delTCT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.248_250delTCT
  hgvsp: ENSP00000443973.1:p.Phe83del
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe225del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: CCTT
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-52814391-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814392
    reference: chr 3
allele count: 1
allele frequency: 9.323140033563304e-6
allele num: 107260
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.686dupA
  hgvsp: ENSP00000273283.2:p.His231SerfsTer45
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.260dupA
  hgvsp: ENSP00000443973.1:p.His89SerfsTer45
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.686dupA
  hgvsp: ENSP00000442584.1:p.His231SerfsTer45
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.265dupA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.286dupA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-179dupA
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.172dupA
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His231SerfsTer45
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-52814396-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814396
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814396
    reference: chr 3
allele count: 1
allele frequency: 9.462528387585163e-6
allele num: 105680
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.685A>G
  hgvsp: ENSP00000273283.2:p.Lys229Glu
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.685A>G
  hgvsp: ENSP00000442584.1:p.Lys229Glu
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.285A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.264A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.171A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.259A>G
  hgvsp: ENSP00000443973.1:p.Lys87Glu
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-180A>G
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26985
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys229Glu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

3-52814404-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814404
    reference: chr 3
allele count: 3
allele frequency: 3.014408874419726e-5
allele num: 99522
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.687+6T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.687+6T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-178+6T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.261+6T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.266+6T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.173+6T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.287+6T>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
hgvs: c.687+6T>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-52814407-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814407
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814407
    reference: chr 3
allele count: 1
allele frequency: 1.029866117404737e-5
allele num: 97100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.173+9G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.687+9G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.687+9G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.287+9G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-178+9G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.261+9G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.266+9G>T
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-52814409-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814409
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814409
    reference: chr 3
allele count: 2
allele frequency: 2.070007659028338e-5
allele num: 96618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.266+11T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.687+11T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.173+11T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-178+11T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.261+11T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.687+11T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.287+11T>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

3-52814417-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814417
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814417
    reference: chr 3
allele count: 1
allele frequency: 1.126329068300595e-5
allele num: 88784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.266+19G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.261+19G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.687+19G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.687+19G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.173+19G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.287+19G>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-178+19G>T
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24925
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5595
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-52814424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814424
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814424
    reference: chr 3
allele count: 1
allele frequency: 1.166888375458004e-5
allele num: 85698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-178+26G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.261+26G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.687+26G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.266+26G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.173+26G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.687+26G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.287+26G>A
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25264
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

3-52814425-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814425
    reference: chr 3
allele count: 1
allele frequency: 1.174453291992578e-5
allele num: 85146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.687+27G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.687+27G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-178+27G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.266+27G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.261+27G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.287+27G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.173+27G>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25293
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-52814428-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814428
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814428
    reference: chr 3
allele count: 2
allele frequency: 2.450499901980004e-5
allele num: 81616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.266+30G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.687+30G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.173+30G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-178+30G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.287+30G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.687+30G>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.261+30G>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24922
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

3-52814444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814444
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814444
    reference: chr 3
allele count: 2
allele frequency: 3.026359592046727e-5
allele num: 66086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.266+46C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-178+46C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.173+46C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.261+46C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.687+46C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.287+46C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.687+46C>T
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21311
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5841
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

3-52814445-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52814445
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52814445
    reference: chr 3
allele count: 7
allele frequency: 1.053613895662121e-4
allele num: 66438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.173+47T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.287+47T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.261+47T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.687+47T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.687+47T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-178+47T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.266+47T>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21368
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20309
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

3-52815905-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815905
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815905
    reference: chr 3
allele count: 58704
allele frequency: 4.884429134840996e-1
allele num: 120186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-177-51T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.688-51T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.688-51T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.174-51T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.262-51T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.267-51T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.288-51T>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 8.75e1
  variant carriers: 1411
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.25e1
  variant carriers: 839
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 8.25e1
  variant carriers: 1799
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 3711
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 3.25e1
  variant carriers: 1382
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 2.25e1
  variant carriers: 1292
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 3.75e1
  variant carriers: 1942
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 7.75e1
  variant carriers: 2362
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.75e1
  variant carriers: 1297
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 242
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.75e1
  variant carriers: 1233
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 9.25e1
  variant carriers: 1019
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 7.25e1
  variant carriers: 3066
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 6.75e1
  variant carriers: 3648
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 5.25e1
  variant carriers: 4094
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 4.25e1
  variant carriers: 2826
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 5.75e1
  variant carriers: 4139
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 3684
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 6.25e1
  variant carriers: 3994
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.75e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 6.25e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 26
num of homozygotes: 15020
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

3-52815913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815913
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815913
    reference: chr 3
allele count: 3
allele frequency: 2.489957172736629e-5
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.688-43G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.688-43G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-177-43G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.262-43G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.174-43G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.267-43G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.288-43G>A
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19710
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-52815916-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815916
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815916
    reference: chr 3
allele count: 3
allele frequency: 2.488965585902499e-5
allele num: 120532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-177-40T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.262-40T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.267-40T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.288-40T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.688-40T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.688-40T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.174-40T>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19705
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

3-52815924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815924
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815924
    reference: chr 3
allele count: 2
allele frequency: 1.658677370664632e-5
allele num: 120578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.174-32C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.688-32C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.262-32C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.267-32C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.288-32C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-177-32C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.688-32C>T
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19695
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-52815925-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815925
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815925
    reference: chr 3
allele count: 1
allele frequency: 8.292974192264313e-6
allele num: 120584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.288-31C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.688-31C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-177-31C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.688-31C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.267-31C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.174-31C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.262-31C>A
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

3-52815929-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815929
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815929
    reference: chr 3
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.688-27A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.688-27A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.262-27A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.174-27A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-177-27A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.288-27A>G
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.267-27A>G
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

3-52815944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815944
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815944
    reference: chr 3
allele count: 6
allele frequency: 4.964914603468821e-5
allele num: 120848
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.688-12C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-177-12C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.288-12C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.262-12C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.174-12C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.688-12C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.267-12C>T
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11485
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13752
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

3-52815945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815945
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815945
    reference: chr 3
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.288-11G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.688-11G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.267-11G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-177-11G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.262-11G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.174-11G>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.688-11G>A
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19680
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-52815947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815947
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815947
    reference: chr 3
allele count: 2
allele frequency: 1.653739932858159e-5
allele num: 120938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.174-9C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.288-9C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.262-9C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-177-9C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.688-9C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.688-9C>T
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.267-9C>T
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19681
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/3-52815952-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815952
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815952
    reference: chr 3
allele count: 8
allele frequency: 6.610259122157589e-5
allele num: 121024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-177-4C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.267-4C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.174-4C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.262-4C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.688-4C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.688-4C>A
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.288-4C>A
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
hgvs: c.688-4C>A
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-52815958-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815958
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815958
    reference: chr 3
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.176T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.690T>C
  hgvsp: ENST00000273283.2:c.690T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.269T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-175T>C
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.264T>C
  hgvsp: ENST00000540715.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.690T>C
  hgvsp: ENST00000542827.1:c.690T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.290T>C
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: c.690T>C
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

3-52815965-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52815965
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52815964
    reference: chr 3
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443973
  ensembl transcript: ENST00000540715
  gene symbol: ITIH1
  hgvsc: ENST00000540715.1:c.272delT
  hgvsp: ENSP00000443973.1:p.Leu91ArgfsTer6
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000487686
  gene symbol: ITIH1
  hgvsc: ENST00000487686.1:n.298delT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000494603
  gene symbol: ITIH1
  hgvsc: ENST00000494603.1:n.277delT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000273283
  ensembl transcript: ENST00000273283
  gene symbol: ITIH1
  hgvsc: ENST00000273283.2:c.698delT
  hgvsp: ENSP00000273283.2:p.Leu233ArgfsTer6
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000443847
  ensembl transcript: ENST00000537050
  gene symbol: ITIH1
  hgvsc: ENST00000537050.1:c.-167delT
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000055957
  ensembl protein: ENSP00000442584
  ensembl transcript: ENST00000542827
  gene symbol: ITIH1
  hgvsc: ENST00000542827.1:c.698delT
  hgvsp: ENSP00000442584.1:p.Leu233ArgfsTer6
  variant of: http://identifiers.org/hgnc/6166
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055957
  ensembl transcript: ENST00000478667
  gene symbol: ITIH1
  hgvsc: ENST00000478667.1:n.184delT
  variant of: http://identifiers.org/hgnc/6166
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19675
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6619
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu233ArgfsTer6
num of homozygotes: 0
reference allele: CT

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.181233774261343e-5
allele num: 16178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64916
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.568698e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

QD
type: SiteQuality
SIO_000300: 1.299e1

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.75e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 1009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37416
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11070
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55865207768322e-5
allele num: 64158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.354e0

VQSLOD
type: SiteQuality
SIO_000300: -1.502e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.529594e6

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.551e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

QD
type: SiteQuality
SIO_000300: 5.39e0

GenotypeQuality
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7058
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.632386549134835e-4
allele num: 6126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.551e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.354e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.529594e6

VQSLOD
type: SiteQuality
SIO_000300: -1.502e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

GenotypeQuality
all individuals: 453
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6268
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62556
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.433962264150943e-5
allele num: 10600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.42638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.506e1

GenotypeQuality
all individuals: 436
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5697
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.623903864891198e-5
allele num: 61580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5864
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

DP
type: SiteQuality
SIO_000300: 1.357093e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.653329806229747e-5
allele num: 60484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.581e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.504e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

DP
type: SiteQuality
SIO_000300: 1.276036e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.658649859014762e-5
allele num: 60290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15558
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

DP
type: SiteQuality
SIO_000300: 1.264218e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.671336602288268e-5
allele num: 59958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.242335e6

VQSLOD
type: SiteQuality
SIO_000300: -2.163e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.115e0

QD
type: SiteQuality
SIO_000300: 1.374e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1234
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.787629603146228e-4
allele num: 5594
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.167296e6

VQSLOD
type: SiteQuality
SIO_000300: -1.414e0

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

QD
type: SiteQuality
SIO_000300: 6.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.443e0

GenotypeQuality
all individuals: 4578
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1127
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 482
bin: 5.75e1
variant carriers: 3

Latino
type: Population
allele count: 157
allele frequency: 1.638830897703549e-2
allele num: 9580
num of homozygotes: 1

Other
type: Population
allele count: 27
allele frequency: 3.383458646616541e-2
allele num: 798
num of homozygotes: 0

South Asian
type: Population
allele count: 198
allele frequency: 1.29007036747459e-2
allele num: 15348
num of homozygotes: 2

East Asian
type: Population
allele count: 1
allele frequency: 1.358326541700625e-4
allele num: 7362
num of homozygotes: 0

African
type: Population
allele count: 66
allele frequency: 7.855272554153773e-3
allele num: 8402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2284
allele frequency: 3.909352320963987e-2
allele num: 58424
num of homozygotes: 33

European (Finnish)
type: Population
allele count: 275
allele frequency: 4.967485549132948e-2
allele num: 5536
num of homozygotes: 7

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.625e1

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

DP
type: SiteQuality
SIO_000300: 1.148221e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
all individuals: 687
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 952
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7322
num of homozygotes: 0

African
type: Population
allele count: 39
allele frequency: 4.661726033946928e-3
allele num: 8366
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.724970675498516e-5
allele num: 57972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.573646663869073e-3
allele num: 9532
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.30718954248366e-4
allele num: 15300
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

QD
type: SiteQuality
SIO_000300: 1.592e1

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.121919e6

GenotypeQuality
all individuals: 1654
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.598046978094485e-5
allele num: 15156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56892
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.066922e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

VQSLOD
type: SiteQuality
SIO_000300: -9.575e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.868e0

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 2101
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.798237727027513e-5
allele num: 55610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 9.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

DP
type: SiteQuality
SIO_000300: 1.015805e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.85349940688019e-5
allele num: 53952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 8.920999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

DP
type: SiteQuality
SIO_000300: 9.91289e5

VQSLOD
type: SiteQuality
SIO_000300: -4.687e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.607e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 481
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variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.65041081367612e-4
allele num: 7546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5070
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14692
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 9.84614e5

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.191e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

MQ
type: SiteQuality
SIO_000300: 5.878e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 61
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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: 2989
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GenotypeQuality
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GenotypeQuality
all individuals: 1103
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 966
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variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.79e0

VQSLOD
type: SiteQuality
SIO_000300: -1.554e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 5.54594e5

GenotypeQuality
all individuals: 3352
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 5018
bin: 7.5e0
variant carriers: 6

GenotypeQuality
all individuals: 214
bin: 9.25e1
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GenotypeQuality
all individuals: 820
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 5395
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 470
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1128
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2793
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2070
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2945
bin: 5.25e1
variant carriers: 5

South Asian
type: Population
allele count: 15
allele frequency: 1.802451333813987e-3
allele num: 8322
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.290556103981573e-4
allele num: 6078
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 6.550218340611353e-3
allele num: 458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.657983919197289e-4
allele num: 30098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.272251308900524e-4
allele num: 3056
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 8.460236886632825e-4
allele num: 3546
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

DP
type: SiteQuality
SIO_000300: 6.96799e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 4.5e-1

GenotypeQuality
all individuals: 4345
bin: 4.25e1
variant carriers: 11

GenotypeQuality
all individuals: 2793
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2718
bin: 1.75e1
variant carriers: 51

GenotypeQuality
all individuals: 1317
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6154
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5433
bin: 3.25e1
variant carriers: 17

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2070
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1128
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 820
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 4.319223868695594e-4
allele num: 30098
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 9.871668311944718e-4
allele num: 6078
num of homozygotes: 1

African
type: Population
allele count: 2
allele frequency: 5.640157924421884e-4
allele num: 3546
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.209805335255948e-4
allele num: 8322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3056
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.611672278338945e-4
allele num: 3564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.96799e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

QD
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.19e-2

GenotypeQuality
all individuals: 5395
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2945
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5433
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3352
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 2793
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1650
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2070
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 470
bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.967439696989833e-5
allele num: 30098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.19e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 6.96799e5

GenotypeQuality
all individuals: 4852
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5937
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5130
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.017103153393906e-5
allele num: 37420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.75529e5

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

FS
type: SiteQuality
SIO_000300: 2.002e0

VQSLOD
type: SiteQuality
SIO_000300: -9.796e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

QD
type: SiteQuality
SIO_000300: 6.15e0

GenotypeQuality
all individuals: 4901
bin: 3.75e1
variant carriers: 114

GenotypeQuality
all individuals: 868
bin: 5.25e1
variant carriers: 211

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 223

GenotypeQuality
all individuals: 1461
bin: 1.75e1
variant carriers: 103

GenotypeQuality
all individuals: 537
bin: 8.25e1
variant carriers: 247

GenotypeQuality
all individuals: 1218
bin: 1.25e1
variant carriers: 132

GenotypeQuality
all individuals: 5450
bin: 6.25e1
variant carriers: 216

GenotypeQuality
all individuals: 1114
bin: 2.5e0
variant carriers: 27

GenotypeQuality
all individuals: 1141
bin: 6.75e1
variant carriers: 170

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 266

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 247

GenotypeQuality
all individuals: 2231
bin: 4.75e1
variant carriers: 139

Latino
type: Population
allele count: 174
allele frequency: 2.34248788368336e-2
allele num: 7428
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 4104
allele frequency: 1.113522899934882e-1
allele num: 36856
num of homozygotes: 173

South Asian
type: Population
allele count: 267
allele frequency: 2.483720930232558e-2
allele num: 10750
num of homozygotes: 3

Other
type: Population
allele count: 46
allele frequency: 8.12720848056537e-2
allele num: 566
num of homozygotes: 6

East Asian
type: Population
allele count: 6
allele frequency: 1.353790613718411e-3
allele num: 4432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 412
allele frequency: 1.122004357298475e-1
allele num: 3672
num of homozygotes: 19

African
type: Population
allele count: 104
allele frequency: 2.344454463480613e-2
allele num: 4436
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 2.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.41e-2

DP
type: SiteQuality
SIO_000300: 7.85662e5

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 4901
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17790
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1218
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2231
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6840
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.713262426741914e-5
allele num: 36856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.41e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

FS
type: SiteQuality
SIO_000300: 2.536e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 7.85662e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
all individuals: 1468
bin: 5.25e1
variant carriers: 1285

GenotypeQuality
all individuals: 2853
bin: 6.25e1
variant carriers: 616

GenotypeQuality
all individuals: 806
bin: 6.75e1
variant carriers: 484

GenotypeQuality
all individuals: 10608
bin: 2.25e1
variant carriers: 2439

GenotypeQuality
all individuals: 3591
bin: 3.25e1
variant carriers: 2096

GenotypeQuality
all individuals: 1479
bin: 1.25e1
variant carriers: 997

GenotypeQuality
all individuals: 821
bin: 7.25e1
variant carriers: 701

GenotypeQuality
all individuals: 1317
bin: 5.75e1
variant carriers: 1146

GenotypeQuality
all individuals: 1734
bin: 8.25e1
variant carriers: 1637

GenotypeQuality
all individuals: 1520
bin: 7.75e1
variant carriers: 1415

GenotypeQuality
all individuals: 576
bin: 8.75e1
variant carriers: 506

GenotypeQuality
all individuals: 1472
bin: 4.75e1
variant carriers: 1089

Other
type: Population
allele count: 256
allele frequency: 4.830188679245283e-1
allele num: 530
num of homozygotes: 55

European (Non-Finnish)
type: Population
allele count: 18048
allele frequency: 5.130187606594656e-1
allele num: 35180
num of homozygotes: 3901

South Asian
type: Population
allele count: 3545
allele frequency: 3.366571699905033e-1
allele num: 10530
num of homozygotes: 509

East Asian
type: Population
allele count: 1901
allele frequency: 4.392329020332717e-1
allele num: 4328
num of homozygotes: 324

European (Finnish)
type: Population
allele count: 1700
allele frequency: 4.843304843304843e-1
allele num: 3510
num of homozygotes: 325

Latino
type: Population
allele count: 3999
allele frequency: 5.959761549925484e-1
allele num: 6710
num of homozygotes: 1039

African
type: Population
allele count: 1306
allele frequency: 2.95341474445952e-1
allele num: 4422
num of homozygotes: 137

QD
type: SiteQuality
SIO_000300: 1.598e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
SIO_000300: 2.567e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.303e-1

DP
type: SiteQuality
SIO_000300: 7.76837e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 17595
bin: 9.75e1
variant carriers: 218

GenotypeQuality
all individuals: 806
bin: 6.75e1
variant carriers: 73

GenotypeQuality
all individuals: 1734
bin: 8.25e1
variant carriers: 29

GenotypeQuality
all individuals: 2472
bin: 3.75e1
variant carriers: 79

GenotypeQuality
all individuals: 1520
bin: 7.75e1
variant carriers: 22

GenotypeQuality
all individuals: 1468
bin: 5.25e1
variant carriers: 44

GenotypeQuality
all individuals: 2369
bin: 7.5e0
variant carriers: 105

GenotypeQuality
all individuals: 2795
bin: 2.75e1
variant carriers: 68

GenotypeQuality
all individuals: 501
bin: 9.25e1
variant carriers: 33

GenotypeQuality
all individuals: 2853
bin: 6.25e1
variant carriers: 72

GenotypeQuality
all individuals: 1317
bin: 5.75e1
variant carriers: 49

GenotypeQuality
all individuals: 2408
bin: 1.75e1
variant carriers: 109

East Asian
type: Population
allele count: 36
allele frequency: 8.317929759704251e-3
allele num: 4328
num of homozygotes: 1

Latino
type: Population
allele count: 46
allele frequency: 6.855439642324888e-3
allele num: 6710
num of homozygotes: 0

African
type: Population
allele count: 30
allele frequency: 6.7842605156038e-3
allele num: 4422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 350
allele frequency: 9.948834565093803e-3
allele num: 35180
num of homozygotes: 5

South Asian
type: Population
allele count: 84
allele frequency: 7.977207977207978e-3
allele num: 10530
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 5.660377358490566e-3
allele num: 530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 5.413105413105413e-3
allele num: 3510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.76837e5

QD
type: SiteQuality
SIO_000300: 1.598e1

FS
type: SiteQuality
SIO_000300: 2.567e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.303e-1

GenotypeQuality
all individuals: 1288
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1734
bin: 8.25e1
variant carriers: 12

GenotypeQuality
all individuals: 2472
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2795
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1317
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2369
bin: 7.5e0
variant carriers: 13

GenotypeQuality
all individuals: 2408
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1472
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 806
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 821
bin: 7.25e1
variant carriers: 9

GenotypeQuality
all individuals: 10608
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1520
bin: 7.75e1
variant carriers: 11

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6710
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.522840343735866e-4
allele num: 4422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.899335232668566e-4
allele num: 10530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 2.279202279202279e-3
allele num: 3510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 71
allele frequency: 2.018192154633314e-3
allele num: 35180
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.567e0

QD
type: SiteQuality
SIO_000300: 1.598e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

DP
type: SiteQuality
SIO_000300: 7.76837e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.303e-1

GenotypeQuality
all individuals: 2681
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17595
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.598e1

FS
type: SiteQuality
SIO_000300: 2.567e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 7.76837e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.303e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 501
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 13

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2795
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 821
bin: 7.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3510
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.849002849002849e-4
allele num: 10530
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.886792452830189e-3
allele num: 530
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.980625931445604e-4
allele num: 6710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.784260515603799e-4
allele num: 4422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 3.695281409891984e-4
allele num: 35180
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.567e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.303e-1

QD
type: SiteQuality
SIO_000300: 1.598e1

DP
type: SiteQuality
SIO_000300: 7.76837e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 579

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 22

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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GenotypeQuality
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GenotypeQuality
all individuals: 1328
bin: 5.75e1
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GenotypeQuality
all individuals: 289
bin: 7.75e1
variant carriers: 34

Other
type: Population
allele count: 9
allele frequency: 1.410658307210031e-2
allele num: 638
num of homozygotes: 0

African
type: Population
allele count: 101
allele frequency: 1.923076923076923e-2
allele num: 5252
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.921434671221179e-3
allele num: 4684
num of homozygotes: 0

Latino
type: Population
allele count: 41
allele frequency: 4.615038271049077e-3
allele num: 8884
num of homozygotes: 0

South Asian
type: Population
allele count: 217
allele frequency: 1.872303710094909e-2
allele num: 11590
num of homozygotes: 2

East Asian
type: Population
allele count: 3
allele frequency: 5.300353356890459e-4
allele num: 5660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 398
allele frequency: 8.630410269754533e-3
allele num: 46116
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 2.747e0

QD
type: SiteQuality
SIO_000300: 7.1e0

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 9.33464e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

GenotypeQuality
all individuals: 11207
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
all individuals: 433
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GenotypeQuality
all individuals: 1482
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.061260667023952e-5
allele num: 48514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4870
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

MQ
type: SiteQuality
SIO_000300: 5.871e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

FS
type: SiteQuality
SIO_000300: 1.829e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.153e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

DP
type: SiteQuality
SIO_000300: 9.55231e5

GenotypeQuality
all individuals: 1570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 716
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variant carriers: 0

GenotypeQuality
all individuals: 153
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GenotypeQuality
all individuals: 1197
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 270
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GenotypeQuality
all individuals: 1512
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 114
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GenotypeQuality
all individuals: 15728
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.114164904862579e-4
allele num: 9460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49144
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 9.91464e5

QD
type: SiteQuality
SIO_000300: 1.276e1

FS
type: SiteQuality
SIO_000300: 6.384e0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

GenotypeQuality
all individuals: 175
bin: 8.25e1
variant carriers: 25

GenotypeQuality
all individuals: 5622
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3112
bin: 9.75e1
variant carriers: 1723

GenotypeQuality
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variant carriers: 18

GenotypeQuality
all individuals: 1860
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variant carriers: 25

GenotypeQuality
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bin: 4.75e1
variant carriers: 24

GenotypeQuality
all individuals: 1311
bin: 4.25e1
variant carriers: 27

GenotypeQuality
all individuals: 95
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variant carriers: 16

GenotypeQuality
all individuals: 3323
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 27

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

African
type: Population
allele count: 1949
allele frequency: 2.600053361792956e-1
allele num: 7496
num of homozygotes: 205

European (Non-Finnish)
type: Population
allele count: 55
allele frequency: 1.074764528862313e-3
allele num: 51174
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.331364625427417e-4
allele num: 12868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.527777777777778e-2
allele num: 720
num of homozygotes: 1

Latino
type: Population
allele count: 123
allele frequency: 1.263352506162695e-2
allele num: 9736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.717e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.476e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 1.088702e6

GenotypeQuality
all individuals: 11886
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 150
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 165
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GenotypeQuality
all individuals: 363
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.902949571836346e-5
allele num: 52550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6714
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.036e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

DP
type: SiteQuality
SIO_000300: 1.137498e6

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

GenotypeQuality
all individuals: 639
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
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GenotypeQuality
all individuals: 250
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GenotypeQuality
all individuals: 33
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 1545
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GenotypeQuality
all individuals: 198
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GenotypeQuality
all individuals: 689
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GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15134
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62514
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.231905465288036e-5
allele num: 10832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.444e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 4.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 1.36618e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

GenotypeQuality
all individuals: 47907
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 563
bin: 2.75e1
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GenotypeQuality
all individuals: 198
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GenotypeQuality
all individuals: 611
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GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 1550
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3425
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GenotypeQuality
all individuals: 493
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.295978905735003e-4
allele num: 6068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.171884416531862e-5
allele num: 63054
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

DP
type: SiteQuality
SIO_000300: 1.377726e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.222e1

GenotypeQuality
all individuals: 3588
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

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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bin: 8.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 8
allele frequency: 8.383986585621463e-4
allele num: 9542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10962
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63278
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0641e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

DP
type: SiteQuality
SIO_000300: 1.384322e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.117e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11042
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: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63876
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.64846486709252e-3
allele num: 9706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.422e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 1.395936e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.88e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15600
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

DP
type: SiteQuality
SIO_000300: 1.409667e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

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: 40

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 648
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variant carriers: 0

African
type: Population
allele count: 26
allele frequency: 2.653061224489796e-3
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.70855207977385e-4
allele num: 64382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.602305475504323e-4
allele num: 11104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15600
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.409667e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 1580
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.273525721455458e-5
allele num: 15940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

FS
type: SiteQuality
SIO_000300: 4.661e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 1.436711e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e0

QD
type: SiteQuality
SIO_000300: 1.484e1

GenotypeQuality
all individuals: 50921
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 153
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GenotypeQuality
all individuals: 98
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.324500232450023e-4
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15956
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.89e0

DP
type: SiteQuality
SIO_000300: 1.438449e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

FS
type: SiteQuality
SIO_000300: 2.596e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-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
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.895e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.059e0

DP
type: SiteQuality
SIO_000300: 1.439347e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.026e0

QD
type: SiteQuality
SIO_000300: 1.082e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.910802775024777e-5
allele num: 10090
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15958
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: 6344
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65628
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.014e0

DP
type: SiteQuality
SIO_000300: 1.440972e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 248
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GenotypeQuality
all individuals: 311
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.137228427642077e-5
allele num: 65176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.325910931174089e-5
allele num: 15808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 1.267e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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bin: 2.5e0
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
all individuals: 48924
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535815210713847e-5
allele num: 65112
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.874689385871494e-5
allele num: 11268
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.427621e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

FS
type: SiteQuality
SIO_000300: 1.221e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
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SIO_000300: -1.874e0

QD
type: SiteQuality
SIO_000300: 7.8e0

VQSLOD
type: SiteQuality
SIO_000300: -8.759e-1

GenotypeQuality
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variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551831160769708e-5
allele num: 64440
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.746e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.408519e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 6.81e0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 88
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.362390739428301e-4
allele num: 8466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64232
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.053e0

DP
type: SiteQuality
SIO_000300: 1.403427e6

VQSLOD
type: SiteQuality
SIO_000300: -1.936e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 2.75e0

QD
type: SiteQuality
SIO_000300: 9.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15304
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.17309217832778e-5
allele num: 63030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5936
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.2e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.369294e6

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609372988283765e-5
allele num: 62136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15164
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

DP
type: SiteQuality
SIO_000300: 1.342661e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3114
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GenotypeQuality
all individuals: 41421
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61844
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.214891264283081e-5
allele num: 10852
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.747e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.87e-1

FS
type: SiteQuality
SIO_000300: 1.1475e1

DP
type: SiteQuality
SIO_000300: 1.336522e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.409e0

QD
type: SiteQuality
SIO_000300: 1.538e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.859651529702291e-5
allele num: 14578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 1.0108e1

QD
type: SiteQuality
SIO_000300: 6.38e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.289613e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.449e0

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: 1999
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GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.136105430583958e-4
allele num: 8802
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58068
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.562e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.01e-1

FS
type: SiteQuality
SIO_000300: 3.044e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

DP
type: SiteQuality
SIO_000300: 1.233083e6

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: 411
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5174
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.16169476869866e-4
allele num: 13878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54382
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: 9.609999999999999e0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.663e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 1.113012e6

GenotypeQuality
all individuals: 19643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.25e1
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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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52966
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.227897838899803e-4
allele num: 8144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.217e1

FS
type: SiteQuality
SIO_000300: 9.401e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.069332e6

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 420
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.065643648763853e-4
allele num: 9384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.897173211914248e-5
allele num: 52710
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.054899e6

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 138
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GenotypeQuality
all individuals: 8541
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.788161993769471e-5
allele num: 12840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48088
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.311e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.30415e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7896
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GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.593879502709595e-4
allele num: 6274
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 7.102e0

VQSLOD
type: SiteQuality
SIO_000300: -1.179e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.743e0

DP
type: SiteQuality
SIO_000300: 8.96227e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.226e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

QD
type: SiteQuality
SIO_000300: 7.55e0

GenotypeQuality
all individuals: 320
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5736
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variant carriers: 0

GenotypeQuality
all individuals: 235
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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: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.180264248026861e-5
allele num: 45866
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.813e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

DP
type: SiteQuality
SIO_000300: 8.85979e5

VQSLOD
type: SiteQuality
SIO_000300: -1.027e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.073e1

GenotypeQuality
all individuals: 5684
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1538
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variant carriers: 2

GenotypeQuality
all individuals: 129
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GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.796163069544365e-4
allele num: 4170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.577e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.933e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 8.61151e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 19407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4443
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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
all individuals: 1075
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variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.765017871555402e-5
allele num: 34692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.79657e5

QD
type: SiteQuality
SIO_000300: 1.41e1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 1079
bin: 4.25e1
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
all individuals: 79
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5496
bin: 1.75e1
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GenotypeQuality
all individuals: 3495
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34938
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.094776352830779e-3
allele num: 6394
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

DP
type: SiteQuality
SIO_000300: 7.78867e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.533e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 89

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 120

GenotypeQuality
all individuals: 461
bin: 5.25e1
variant carriers: 178

GenotypeQuality
all individuals: 461
bin: 4.75e1
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GenotypeQuality
all individuals: 1550
bin: 7.75e1
variant carriers: 234

GenotypeQuality
all individuals: 1447
bin: 8.25e1
variant carriers: 243

GenotypeQuality
all individuals: 1875
bin: 6.75e1
variant carriers: 170

GenotypeQuality
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bin: 8.75e1
variant carriers: 164

GenotypeQuality
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variant carriers: 41695

GenotypeQuality
all individuals: 1204
bin: 9.25e1
variant carriers: 240

European (Finnish)
type: Population
allele count: 3064
allele frequency: 4.656534954407295e-1
allele num: 6580
num of homozygotes: 718

East Asian
type: Population
allele count: 3459
allele frequency: 4.035230984601026e-1
allele num: 8572
num of homozygotes: 710

African
type: Population
allele count: 6854
allele frequency: 6.682917316692668e-1
allele num: 10256
num of homozygotes: 2310

Other
type: Population
allele count: 437
allele frequency: 4.855555555555556e-1
allele num: 900
num of homozygotes: 106

Latino
type: Population
allele count: 7124
allele frequency: 6.181881291218327e-1
allele num: 11524
num of homozygotes: 2201

European (Non-Finnish)
type: Population
allele count: 32817
allele frequency: 4.954706042213969e-1
allele num: 66234
num of homozygotes: 8186

South Asian
type: Population
allele count: 4949
allele frequency: 3.070099255583126e-1
allele num: 16120
num of homozygotes: 789

FS
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

QD
type: SiteQuality
SIO_000300: 2.176e1

DP
type: SiteQuality
SIO_000300: 3.256393e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
all individuals: 4989
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variant carriers: 0

GenotypeQuality
all individuals: 544
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variant carriers: 0

GenotypeQuality
all individuals: 6270
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GenotypeQuality
all individuals: 350
bin: 4.25e1
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GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 282
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GenotypeQuality
all individuals: 337
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GenotypeQuality
all individuals: 566
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GenotypeQuality
all individuals: 11700
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GenotypeQuality
all individuals: 3925
bin: 9.25e1
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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: 900
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.919423900350331e-4
allele num: 10276
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 2.207907e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

FS
type: SiteQuality
SIO_000300: 5.02e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6280
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.919423900350331e-4
allele num: 10276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 6.224e0

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 2.209492e6

QD
type: SiteQuality
SIO_000300: 1.646e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 493
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3441
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variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.071e1

QD
type: SiteQuality
SIO_000300: 1.054e1

DP
type: SiteQuality
SIO_000300: 2.215868e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.229e0

VQSLOD
type: SiteQuality
SIO_000300: -1.639e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: -7.21e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

GenotypeQuality
all individuals: 486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3929
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4551
bin: 8.25e1
variant carriers: 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: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.521e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.0534e1

DP
type: SiteQuality
SIO_000300: 2.21701e6

QD
type: SiteQuality
SIO_000300: 1.037e1

GenotypeQuality
all individuals: 390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
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variant carriers: 0

GenotypeQuality
all individuals: 13041
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variant carriers: 0

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

GenotypeQuality
all individuals: 3930
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4993
bin: 7.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.676e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

DP
type: SiteQuality
SIO_000300: 2.21973e6

MQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3929
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19684
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 300
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.015399422521656e-5
allele num: 66496
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
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: 16342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
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: 900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

DP
type: SiteQuality
SIO_000300: 2.230999e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.313e1

FS
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.819e0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 120
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GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 6537
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3930
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: -2.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 1.43e1

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.628e0

DP
type: SiteQuality
SIO_000300: 2.23165e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
all individuals: 259
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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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: 135
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variant carriers: 0

GenotypeQuality
all individuals: 3483
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variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
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: 1
allele frequency: 6.101281269066504e-5
allele num: 16390
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

FS
type: SiteQuality
SIO_000300: 9.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

DP
type: SiteQuality
SIO_000300: 2.233191e6

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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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
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5024
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 8
allele frequency: 7.751937984496124e-4
allele num: 10320
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.235337e6

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.219e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

FS
type: SiteQuality
SIO_000300: 1.176e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.57e0

MQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5023
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GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 2.2369e6

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.132e1