1-226923728-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923728
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923728
    reference: chr 1
allele count: 3
allele frequency: 2.500333377783705e-5
allele num: 119984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1432C>G
  hgvsp: ENSP00000355748.1:p.Pro478Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1432C>G
  hgvsp: ENSP00000411152.1:p.Pro478Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1432C>G
  hgvsp: ENSP00000272117.3:p.Pro478Ala
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8661
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro478Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-226923740-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923740
    reference: chr 1
allele count: 1
allele frequency: 8.36344172353807e-6
allele num: 119568
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1420A>C
  hgvsp: ENST00000429204.1:c.1420A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1420A>C
  hgvsp: ENST00000366784.1:c.1420A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1420A>C
  hgvsp: ENST00000272117.3:c.1420A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8657
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg474Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS

1-226923741-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923741
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923741
    reference: chr 1
allele count: 1
allele frequency: 8.368761088608442e-6
allele num: 119492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1419C>A
  hgvsp: ENST00000272117.3:c.1419C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1419C>A
  hgvsp: ENST00000429204.1:c.1419C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1419C>A
  hgvsp: ENST00000366784.1:c.1419C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
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genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly473Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-226923745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923745
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923745
    reference: chr 1
allele count: 1
allele frequency: 8.383635144198524e-6
allele num: 119280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1415C>T
  hgvsp: ENSP00000411152.1:p.Ser472Phe
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1415C>T
  hgvsp: ENSP00000272117.3:p.Ser472Phe
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1415C>T
  hgvsp: ENSP00000355748.1:p.Ser472Phe
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
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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
  all individuals: 4060
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genotype quality: GenotypeQuality
  all individuals: 152
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8657
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser472Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-226923746-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923746
    reference: chr 1
allele count: 4
allele frequency: 3.356267830172848e-5
allele num: 119180
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1414T>G
  hgvsp: ENSP00000411152.1:p.Ser472Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1414T>G
  hgvsp: ENSP00000355748.1:p.Ser472Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1414T>G
  hgvsp: ENSP00000272117.3:p.Ser472Ala
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8659
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser472Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-226923749-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923749
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923749
    reference: chr 1
allele count: 9
allele frequency: 7.576905591756326e-5
allele num: 118782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1411C>G
  hgvsp: ENSP00000272117.3:p.Pro471Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1411C>G
  hgvsp: ENSP00000355748.1:p.Pro471Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1411C>G
  hgvsp: ENSP00000411152.1:p.Pro471Ala
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
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genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 8186
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 101
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro471Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-226923755-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923755
    reference: chr 1
allele count: 3
allele frequency: 2.53318471982977e-5
allele num: 118428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1405G>A
  hgvsp: ENSP00000355748.1:p.Gly469Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1405G>A
  hgvsp: ENSP00000272117.3:p.Gly469Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1405G>A
  hgvsp: ENSP00000411152.1:p.Gly469Arg
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  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
  all individuals: 125
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 75
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genotype quality: GenotypeQuality
  all individuals: 8655
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly469Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-226923756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923756
    reference: chr 1
allele count: 1
allele frequency: 8.448086508405846e-6
allele num: 118370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1404G>A
  hgvsp: ENST00000272117.3:c.1404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1404G>A
  hgvsp: ENST00000366784.1:c.1404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1404G>A
  hgvsp: ENST00000429204.1:c.1404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 12813
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 78
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2383
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8652
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala468Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-226923757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923757
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923757
    reference: chr 1
allele count: 3
allele frequency: 2.537469973271983e-5
allele num: 118228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1403C>T
  hgvsp: ENSP00000355748.1:p.Ala468Val
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1403C>T
  hgvsp: ENSP00000272117.3:p.Ala468Val
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1403C>T
  hgvsp: ENSP00000411152.1:p.Ala468Val
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18492
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8652
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala468Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-226923759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923759
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923759
    reference: chr 1
allele count: 1
allele frequency: 8.482051978014521e-6
allele num: 117896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1401G>A
  hgvsp: ENST00000272117.3:c.1401G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1401G>A
  hgvsp: ENST00000429204.1:c.1401G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1401G>A
  hgvsp: ENST00000366784.1:c.1401G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
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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: 4648
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu467Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

1-226923769-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923769
    reference: chr 1
allele count: 1
allele frequency: 8.5966782435267e-6
allele num: 116324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1391G>C
  hgvsp: ENSP00000272117.3:p.Gly464Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1391G>C
  hgvsp: ENSP00000411152.1:p.Gly464Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1391G>C
  hgvsp: ENSP00000355748.1:p.Gly464Ala
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8650
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly464Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-226923771-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923771
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923771
    reference: chr 1
allele count: 1
allele frequency: 8.609408361457401e-6
allele num: 116152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1389C>G
  hgvsp: ENST00000272117.3:c.1389C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1389C>G
  hgvsp: ENST00000429204.1:c.1389C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1389C>G
  hgvsp: ENST00000366784.1:c.1389C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3752
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genotype quality: GenotypeQuality
  all individuals: 7929
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genotype quality: GenotypeQuality
  all individuals: 8652
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr463Thr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-226923777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923777
    reference: chr 1
allele count: 1
allele frequency: 8.666712889135408e-6
allele num: 115384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1383G>A
  hgvsp: ENST00000429204.1:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1383G>A
  hgvsp: ENST00000366784.1:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1383G>A
  hgvsp: ENST00000272117.3:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro461Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-226923778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923778
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923778
    reference: chr 1
allele count: 1
allele frequency: 8.675735702387563e-6
allele num: 115264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1382C>T
  hgvsp: ENSP00000272117.3:p.Pro461Leu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1382C>T
  hgvsp: ENSP00000355748.1:p.Pro461Leu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1382C>T
  hgvsp: ENSP00000411152.1:p.Pro461Leu
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro461Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-226923779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923779
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923779
    reference: chr 1
allele count: 482
allele frequency: 4.188026761664784e-3
allele num: 115090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1381C>T
  hgvsp: ENSP00000355748.1:p.Pro461Ser
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1381C>T
  hgvsp: ENSP00000272117.3:p.Pro461Ser
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1381C>T
  hgvsp: ENSP00000411152.1:p.Pro461Ser
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12399
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17065
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 21970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
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genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8936
  bin: 9.75e1
  variant carriers: 481
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Pro461Ser
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-226923789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923789
    reference: chr 1
allele count: 1
allele frequency: 8.768699251153084e-6
allele num: 114042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1371C>T
  hgvsp: ENST00000366784.1:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1371C>T
  hgvsp: ENST00000272117.3:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1371C>T
  hgvsp: ENST00000429204.1:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 792
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21270
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genotype quality: GenotypeQuality
  all individuals: 3300
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 555
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genotype quality: GenotypeQuality
  all individuals: 4802
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro457Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-226923792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923792
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923792
    reference: chr 1
allele count: 2
allele frequency: 1.759324419422942e-5
allele num: 113680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1368C>T
  hgvsp: ENST00000272117.3:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1368C>T
  hgvsp: ENST00000366784.1:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1368C>T
  hgvsp: ENST00000429204.1:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8585
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser456Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-226923797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923797
    reference: chr 1
allele count: 1
allele frequency: 8.853631759747848e-6
allele num: 112948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1363G>A
  hgvsp: ENSP00000272117.3:p.Gly455Ser
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1363G>A
  hgvsp: ENSP00000411152.1:p.Gly455Ser
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1363G>A
  hgvsp: ENSP00000355748.1:p.Gly455Ser
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 255
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly455Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-226923800-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923800
    reference: chr 1
allele count: 1
allele frequency: 8.915357594993135e-6
allele num: 112166
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1360G>C
  hgvsp: ENSP00000411152.1:p.Gly454Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1360G>C
  hgvsp: ENSP00000272117.3:p.Gly454Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1360G>C
  hgvsp: ENSP00000355748.1:p.Gly454Arg
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1957
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genotype quality: GenotypeQuality
  all individuals: 7496
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly454Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-226923801-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923801
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923801
    reference: chr 1
allele count: 1
allele frequency: 8.915675540735722e-6
allele num: 112162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1359T>A
  hgvsp: ENST00000366784.1:c.1359T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1359T>A
  hgvsp: ENST00000272117.3:c.1359T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1359T>A
  hgvsp: ENST00000429204.1:c.1359T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2386
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu453Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-226923809-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923809
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923809
    reference: chr 1
allele count: 1
allele frequency: 9.024456276509339e-6
allele num: 110810
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1351G>A
  hgvsp: ENSP00000411152.1:p.Gly451Ser
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1351G>A
  hgvsp: ENSP00000355748.1:p.Gly451Ser
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1351G>A
  hgvsp: ENSP00000272117.3:p.Gly451Ser
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly451Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-226923813-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923813
    reference: chr 1
allele count: 1
allele frequency: 9.111119209883743e-6
allele num: 109756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1347G>T
  hgvsp: ENST00000272117.3:c.1347G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1347G>T
  hgvsp: ENST00000366784.1:c.1347G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1347G>T
  hgvsp: ENST00000429204.1:c.1347G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr449Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-226923814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923814
    reference: chr 1
allele count: 1
allele frequency: 9.10647288092376e-6
allele num: 109812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1346C>T
  hgvsp: ENSP00000355748.1:p.Thr449Met
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1346C>T
  hgvsp: ENSP00000411152.1:p.Thr449Met
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1346C>T
  hgvsp: ENSP00000272117.3:p.Thr449Met
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8583
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr449Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

1-226923814-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923814
    reference: chr 1
allele count: 1
allele frequency: 9.10647288092376e-6
allele num: 109812
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1346C>A
  hgvsp: ENSP00000411152.1:p.Thr449Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1346C>A
  hgvsp: ENSP00000272117.3:p.Thr449Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1346C>A
  hgvsp: ENSP00000355748.1:p.Thr449Lys
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8583
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr449Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-226923815-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923815
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923815
    reference: chr 1
allele count: 1
allele frequency: 9.116767558894318e-6
allele num: 109688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1345A>G
  hgvsp: ENSP00000355748.1:p.Thr449Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1345A>G
  hgvsp: ENSP00000272117.3:p.Thr449Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1345A>G
  hgvsp: ENSP00000411152.1:p.Thr449Ala
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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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
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5986
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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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: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr449Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

1-226923817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923817
    reference: chr 1
allele count: 1
allele frequency: 9.12275580207269e-6
allele num: 109616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1343C>T
  hgvsp: ENSP00000355748.1:p.Pro448Leu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1343C>T
  hgvsp: ENSP00000272117.3:p.Pro448Leu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1343C>T
  hgvsp: ENSP00000411152.1:p.Pro448Leu
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro448Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-226923818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923818
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923818
    reference: chr 1
allele count: 1
allele frequency: 9.131752931292691e-6
allele num: 109508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1342C>T
  hgvsp: ENSP00000355748.1:p.Pro448Ser
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1342C>T
  hgvsp: ENSP00000272117.3:p.Pro448Ser
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1342C>T
  hgvsp: ENSP00000411152.1:p.Pro448Ser
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11933
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3660
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro448Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-226923821-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923821
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923821
    reference: chr 1
allele count: 4
allele frequency: 3.768962593046264e-5
allele num: 106130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1339T>G
  hgvsp: ENSP00000355748.1:p.Ser447Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1339T>G
  hgvsp: ENSP00000272117.3:p.Ser447Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1339T>G
  hgvsp: ENSP00000411152.1:p.Ser447Ala
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser447Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-226923827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923827
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923827
    reference: chr 1
allele count: 1
allele frequency: 9.256002517632684e-6
allele num: 108038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1333G>A
  hgvsp: ENSP00000355748.1:p.Gly445Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1333G>A
  hgvsp: ENSP00000272117.3:p.Gly445Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1333G>A
  hgvsp: ENSP00000411152.1:p.Gly445Arg
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly445Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

1-226923828-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923828
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923828
    reference: chr 1
allele count: 1
allele frequency: 9.263376315399436e-6
allele num: 107952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1332G>C
  hgvsp: ENSP00000272117.3:p.Glu444Asp
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1332G>C
  hgvsp: ENSP00000411152.1:p.Glu444Asp
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1332G>C
  hgvsp: ENSP00000355748.1:p.Glu444Asp
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6168
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
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genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8503
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Glu444Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

1-226923831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923831
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923831
    reference: chr 1
allele count: 2
allele frequency: 1.862891207153502e-5
allele num: 107360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1329G>A
  hgvsp: ENST00000366784.1:c.1329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1329G>A
  hgvsp: ENST00000272117.3:c.1329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1329G>A
  hgvsp: ENST00000429204.1:c.1329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
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genotype quality: GenotypeQuality
  all individuals: 3845
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1905
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5939
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8503
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Val443Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-226923835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923835
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923835
    reference: chr 1
allele count: 1
allele frequency: 9.360666479453337e-6
allele num: 106830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1325G>T
  hgvsp: ENSP00000272117.3:p.Arg442Ile
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1325G>T
  hgvsp: ENSP00000355748.1:p.Arg442Ile
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1325G>T
  hgvsp: ENSP00000411152.1:p.Arg442Ile
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18222
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genotype quality: GenotypeQuality
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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: 353
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 590
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8501
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7195
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg442Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-226923837-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923837
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923837
    reference: chr 1
allele count: 3
allele frequency: 2.815315315315315e-5
allele num: 106560
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1323C>A
  hgvsp: ENSP00000411152.1:p.Asp441Glu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1323C>A
  hgvsp: ENSP00000272117.3:p.Asp441Glu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1323C>A
  hgvsp: ENSP00000355748.1:p.Asp441Glu
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 14966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 8504
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18170
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3843
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5792
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp441Glu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-226923845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923845
    reference: chr 1
allele count: 1
allele frequency: 9.487125970058631e-6
allele num: 105406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1315C>T
  hgvsp: ENSP00000411152.1:p.Leu439Phe
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1315C>T
  hgvsp: ENSP00000272117.3:p.Leu439Phe
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1315C>T
  hgvsp: ENSP00000355748.1:p.Leu439Phe
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
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genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 9.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 426
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genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 556
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genotype quality: GenotypeQuality
  all individuals: 657
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8497
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu439Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-226923848-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923848
    reference: chr 1
allele count: 1
allele frequency: 9.507872518445273e-6
allele num: 105176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1312C>A
  hgvsp: ENSP00000272117.3:p.Gln438Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1312C>A
  hgvsp: ENSP00000355748.1:p.Gln438Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1312C>A
  hgvsp: ENSP00000411152.1:p.Gln438Lys
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  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
  all individuals: 2342
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17524
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln438Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-226923854-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923854
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923855
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 103976
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1305dupG
  hgvsp: ENSP00000355748.1:p.Arg436AlafsTer105
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1305dupG
  hgvsp: ENSP00000272117.3:p.Arg436AlafsTer105
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1305dupG
  hgvsp: ENSP00000411152.1:p.Arg436AlafsTer105
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg436AlafsTer105
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

1-226923855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923855
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923855
    reference: chr 1
allele count: 1
allele frequency: 9.611687812379855e-6
allele num: 104040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1305G>A
  hgvsp: ENST00000429204.1:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1305G>A
  hgvsp: ENST00000366784.1:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1305G>A
  hgvsp: ENST00000272117.3:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4488
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly435Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-226923857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923857
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923857
    reference: chr 1
allele count: 1
allele frequency: 9.624453812246155e-6
allele num: 103902
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1303G>A
  hgvsp: ENSP00000411152.1:p.Gly435Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1303G>A
  hgvsp: ENSP00000355748.1:p.Gly435Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1303G>A
  hgvsp: ENSP00000272117.3:p.Gly435Arg
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly435Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-226923858-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923858
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923858
    reference: chr 1
allele count: 1
allele frequency: 9.634096996088556e-6
allele num: 103798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1302G>T
  hgvsp: ENST00000366784.1:c.1302G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1302G>T
  hgvsp: ENST00000272117.3:c.1302G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1302G>T
  hgvsp: ENST00000429204.1:c.1302G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly434Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-226923860-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923860
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923860
    reference: chr 1
allele count: 1
allele frequency: 9.650646593321753e-6
allele num: 103620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1300G>C
  hgvsp: ENSP00000272117.3:p.Gly434Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1300G>C
  hgvsp: ENSP00000411152.1:p.Gly434Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1300G>C
  hgvsp: ENSP00000355748.1:p.Gly434Arg
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 399
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  variant carriers: 0
hgvs: p.Gly434Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

1-226923860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923860
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923860
    reference: chr 1
allele count: 1
allele frequency: 9.650646593321753e-6
allele num: 103620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1300G>A
  hgvsp: ENSP00000355748.1:p.Gly434Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1300G>A
  hgvsp: ENSP00000272117.3:p.Gly434Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1300G>A
  hgvsp: ENSP00000411152.1:p.Gly434Arg
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  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: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 11129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8497
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16318
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly434Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

1-226923865-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923865
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923865
    reference: chr 1
allele count: 3
allele frequency: 2.903881521633917e-5
allele num: 103310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1295T>C
  hgvsp: ENSP00000411152.1:p.Val432Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1295T>C
  hgvsp: ENSP00000272117.3:p.Val432Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1295T>C
  hgvsp: ENSP00000355748.1:p.Val432Ala
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13684
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genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
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genotype quality: GenotypeQuality
  all individuals: 591
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genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 8495
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 613
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16525
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6748
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4162
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genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val432Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

1-226923866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923866
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923866
    reference: chr 1
allele count: 1
allele frequency: 9.687857239735715e-6
allele num: 103222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1294G>A
  hgvsp: ENSP00000272117.3:p.Val432Met
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1294G>A
  hgvsp: ENSP00000411152.1:p.Val432Met
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1294G>A
  hgvsp: ENSP00000355748.1:p.Val432Met
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8495
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 615
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genotype quality: GenotypeQuality
  all individuals: 457
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genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 485
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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: 6719
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 16407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val432Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

1-226923867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923867
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923867
    reference: chr 1
allele count: 3
allele frequency: 2.909175539652063e-5
allele num: 103122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1293C>T
  hgvsp: ENST00000366784.1:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1293C>T
  hgvsp: ENST00000272117.3:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1293C>T
  hgvsp: ENST00000429204.1:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
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genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 8490
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 502
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro431Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-226923870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923870
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923870
    reference: chr 1
allele count: 2
allele frequency: 1.937684079987599e-5
allele num: 103216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1290C>T
  hgvsp: ENST00000272117.3:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1290C>T
  hgvsp: ENST00000366784.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1290C>T
  hgvsp: ENST00000429204.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10817
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8496
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala430Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

1-226923871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923871
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923871
    reference: chr 1
allele count: 2
allele frequency: 1.939713698258137e-5
allele num: 103108
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1289C>T
  hgvsp: ENSP00000411152.1:p.Ala430Val
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1289C>T
  hgvsp: ENSP00000272117.3:p.Ala430Val
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1289C>T
  hgvsp: ENSP00000355748.1:p.Ala430Val
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala430Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-226923878-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923878
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923878
    reference: chr 1
allele count: 1
allele frequency: 9.691049346823275e-6
allele num: 103188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1282A>G
  hgvsp: ENSP00000355748.1:p.Ser428Gly
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1282A>G
  hgvsp: ENSP00000272117.3:p.Ser428Gly
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1282A>G
  hgvsp: ENSP00000411152.1:p.Ser428Gly
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 339
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3161
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser428Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

1-226923883-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923883
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923883
    reference: chr 1
allele count: 1
allele frequency: 9.690485880962072e-6
allele num: 103194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1277C>A
  hgvsp: ENSP00000272117.3:p.Ala426Asp
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1277C>A
  hgvsp: ENSP00000355748.1:p.Ala426Asp
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1277C>A
  hgvsp: ENSP00000411152.1:p.Ala426Asp
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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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: 461
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  variant carriers: 0
hgvs: p.Ala426Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

1-226923887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923887
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923887
    reference: chr 1
allele count: 1
allele frequency: 9.664823906908416e-6
allele num: 103468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1273G>A
  hgvsp: ENSP00000272117.3:p.Glu425Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1273G>A
  hgvsp: ENSP00000355748.1:p.Glu425Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1273G>A
  hgvsp: ENSP00000411152.1:p.Glu425Lys
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Glu425Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-226923890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923890
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923890
    reference: chr 1
allele count: 5
allele frequency: 4.829984544049459e-5
allele num: 103520
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1270G>A
  hgvsp: ENSP00000411152.1:p.Glu424Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1270G>A
  hgvsp: ENSP00000355748.1:p.Glu424Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1270G>A
  hgvsp: ENSP00000272117.3:p.Glu424Lys
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 16419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu424Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-226923899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923899
    reference: chr 1
allele count: 8
allele frequency: 7.704902244052779e-5
allele num: 103830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1261G>A
  hgvsp: ENSP00000272117.3:p.Val421Ile
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1261G>A
  hgvsp: ENSP00000355748.1:p.Val421Ile
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1261G>A
  hgvsp: ENSP00000411152.1:p.Val421Ile
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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: 2667
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Val421Ile
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-226923900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923900
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 103976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1260C>T
  hgvsp: ENST00000366784.1:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1260C>T
  hgvsp: ENST00000272117.3:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1260C>T
  hgvsp: ENST00000429204.1:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
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  variant carriers: 0
hgvs: p.Ser420Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-226923911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923911
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923911
    reference: chr 1
allele count: 9
allele frequency: 8.571102053255114e-5
allele num: 105004
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1249G>A
  hgvsp: ENSP00000411152.1:p.Ala417Thr
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1249G>A
  hgvsp: ENSP00000355748.1:p.Ala417Thr
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1249G>A
  hgvsp: ENSP00000272117.3:p.Ala417Thr
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8568
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala417Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

1-226923916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923916
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923916
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 105686
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1244C>T
  hgvsp: ENSP00000411152.1:p.Pro415Leu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1244C>T
  hgvsp: ENSP00000355748.1:p.Pro415Leu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1244C>T
  hgvsp: ENSP00000272117.3:p.Pro415Leu
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Pro415Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-226923916-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923916
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923916
    reference: chr 1
allele count: 1
allele frequency: 9.461991181424219e-6
allele num: 105686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1244C>A
  hgvsp: ENSP00000355748.1:p.Pro415His
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1244C>A
  hgvsp: ENSP00000411152.1:p.Pro415His
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1244C>A
  hgvsp: ENSP00000272117.3:p.Pro415His
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro415His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-226923923-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923923
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923923
    reference: chr 1
allele count: 6
allele frequency: 5.623453550273675e-5
allele num: 106696
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1237A>C
  hgvsp: ENST00000429204.1:c.1237A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1237A>C
  hgvsp: ENST00000366784.1:c.1237A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1237A>C
  hgvsp: ENST00000272117.3:c.1237A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11294
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
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genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3551
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4281
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19962
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 102
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genotype quality: GenotypeQuality
  all individuals: 88
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genotype quality: GenotypeQuality
  all individuals: 147
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genotype quality: GenotypeQuality
  all individuals: 2445
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genotype quality: GenotypeQuality
  all individuals: 285
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8650
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg413Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

1-226923930-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923930
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923930
    reference: chr 1
allele count: 2
allele frequency: 1.860811313732787e-5
allele num: 107480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1230C>G
  hgvsp: ENSP00000272117.3:p.Ser410Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1230C>G
  hgvsp: ENSP00000411152.1:p.Ser410Arg
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1230C>G
  hgvsp: ENSP00000355748.1:p.Ser410Arg
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8691
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser410Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-226923936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923936
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923936
    reference: chr 1
allele count: 1
allele frequency: 9.263376315399436e-6
allele num: 107952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1224C>T
  hgvsp: ENST00000272117.3:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1224C>T
  hgvsp: ENST00000429204.1:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1224C>T
  hgvsp: ENST00000366784.1:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3798
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8742
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser408Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-226923938-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923938
    reference: chr 1
allele count: 58249
allele frequency: 5.305492303488478e-1
allele num: 109790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1222T>G
  hgvsp: ENSP00000272117.3:p.Ser408Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1222T>G
  hgvsp: ENSP00000411152.1:p.Ser408Ala
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1222T>G
  hgvsp: ENSP00000355748.1:p.Ser408Ala
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 7.75e1
  variant carriers: 2595
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 5.25e1
  variant carriers: 4143
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 3244
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 3.25e1
  variant carriers: 1498
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 4.75e1
  variant carriers: 3626
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 5.75e1
  variant carriers: 4497
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 594
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 4.25e1
  variant carriers: 2869
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 6.25e1
  variant carriers: 4433
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 6.75e1
  variant carriers: 3969
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 2.25e1
  variant carriers: 682
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 2.75e1
  variant carriers: 1001
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 7.5e0
  variant carriers: 1956
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 2114
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.5e0
  variant carriers: 608
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 729
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 8.75e1
  variant carriers: 1396
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 9.75e1
  variant carriers: 2171
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.25e1
  variant carriers: 935
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 8.25e1
  variant carriers: 1833
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 6.75e1
  variant carriers: 186
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 1.75e1
  variant carriers: 567
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.25e1
  variant carriers: 319
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 379
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 242
genotype quality: GenotypeQuality
  all individuals: 9377
  bin: 6.25e1
  variant carriers: 171
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 238
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 2.25e1
  variant carriers: 422
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 281
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.25e1
  variant carriers: 383
genotype quality: GenotypeQuality
  all individuals: 40434
  bin: 9.75e1
  variant carriers: 40350
genotype quality: GenotypeQuality
  all individuals: 367
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  variant carriers: 326
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.25e1
  variant carriers: 153
hgvs: p.Ser408Ala
num of homozygotes: 15972
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-226923943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923943
    reference: chr 1
allele count: 1
allele frequency: 9.107302234931968e-6
allele num: 109802
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1217C>T
  hgvsp: ENSP00000411152.1:p.Ser406Phe
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1217C>T
  hgvsp: ENSP00000272117.3:p.Ser406Phe
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1217C>T
  hgvsp: ENSP00000355748.1:p.Ser406Phe
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25230
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 105
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser406Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-226923945-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923945
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923945
    reference: chr 1
allele count: 1
allele frequency: 9.104980424292089e-6
allele num: 109830
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1215C>A
  hgvsp: ENST00000429204.1:c.1215C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1215C>A
  hgvsp: ENST00000366784.1:c.1215C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1215C>A
  hgvsp: ENST00000272117.3:c.1215C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16969
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser405Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

1-226923945-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923945
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923945
    reference: chr 1
allele count: 2
allele frequency: 1.820996084858418e-5
allele num: 109830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1215C>G
  hgvsp: ENST00000366784.1:c.1215C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1215C>G
  hgvsp: ENST00000272117.3:c.1215C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1215C>G
  hgvsp: ENST00000429204.1:c.1215C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16969
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser405Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD

1-226923946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923946
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923946
    reference: chr 1
allele count: 1
allele frequency: 9.10365420679861e-6
allele num: 109846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1214C>T
  hgvsp: ENSP00000355748.1:p.Ser405Phe
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1214C>T
  hgvsp: ENSP00000411152.1:p.Ser405Phe
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1214C>T
  hgvsp: ENSP00000272117.3:p.Ser405Phe
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser405Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-226923953-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923953
    reference: chr 1
allele count: 1
allele frequency: 9.095539547405952e-6
allele num: 109944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1207G>C
  hgvsp: ENSP00000272117.3:p.Ala403Pro
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1207G>C
  hgvsp: ENSP00000355748.1:p.Ala403Pro
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1207G>C
  hgvsp: ENSP00000411152.1:p.Ala403Pro
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala403Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

1-226923953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923953
    reference: chr 1
allele count: 1
allele frequency: 9.095539547405952e-6
allele num: 109944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1207G>A
  hgvsp: ENSP00000272117.3:p.Ala403Thr
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1207G>A
  hgvsp: ENSP00000411152.1:p.Ala403Thr
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1207G>A
  hgvsp: ENSP00000355748.1:p.Ala403Thr
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ala403Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-226923962-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923962
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923962
    reference: chr 1
allele count: 1
allele frequency: 9.06355363811043e-6
allele num: 110332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1198G>C
  hgvsp: ENSP00000355748.1:p.Val400Leu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1198G>C
  hgvsp: ENSP00000411152.1:p.Val400Leu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1198G>C
  hgvsp: ENSP00000272117.3:p.Val400Leu
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16962
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val400Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-226923973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923973
    reference: chr 1
allele count: 39
allele frequency: 3.507131166705635e-4
allele num: 111202
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1187C>T
  hgvsp: ENSP00000411152.1:p.Thr396Met
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1187C>T
  hgvsp: ENSP00000355748.1:p.Thr396Met
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1187C>T
  hgvsp: ENSP00000272117.3:p.Thr396Met
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16957
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 196
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genotype quality: GenotypeQuality
  all individuals: 447
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr396Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-226923973-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923973
    reference: chr 1
allele count: 1
allele frequency: 8.992644017193935e-6
allele num: 111202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1187C>A
  hgvsp: ENSP00000272117.3:p.Thr396Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1187C>A
  hgvsp: ENSP00000411152.1:p.Thr396Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1187C>A
  hgvsp: ENSP00000355748.1:p.Thr396Lys
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 215
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genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 16957
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 196
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genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr396Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-226923982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923982
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923982
    reference: chr 1
allele count: 18
allele frequency: 1.60639702995038e-4
allele num: 112052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1178C>T
  hgvsp: ENSP00000355748.1:p.Pro393Leu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1178C>T
  hgvsp: ENSP00000272117.3:p.Pro393Leu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1178C>T
  hgvsp: ENSP00000411152.1:p.Pro393Leu
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13214
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16962
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro393Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-226923982-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923982
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923982
    reference: chr 1
allele count: 1
allele frequency: 8.924427944168779e-6
allele num: 112052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1178C>A
  hgvsp: ENSP00000272117.3:p.Pro393Gln
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1178C>A
  hgvsp: ENSP00000355748.1:p.Pro393Gln
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1178C>A
  hgvsp: ENSP00000411152.1:p.Pro393Gln
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16962
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genotype quality: GenotypeQuality
  all individuals: 38
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genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 26017
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6041
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 96
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genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro393Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-226923989-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923989
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923989
    reference: chr 1
allele count: 19
allele frequency: 1.681921994228352e-4
allele num: 112966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1171A>G
  hgvsp: ENSP00000355748.1:p.Lys391Glu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1171A>G
  hgvsp: ENSP00000411152.1:p.Lys391Glu
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1171A>G
  hgvsp: ENSP00000272117.3:p.Lys391Glu
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  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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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16948
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 345
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genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
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genotype quality: GenotypeQuality
  all individuals: 870
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 586
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genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys391Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-226923990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923990
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923990
    reference: chr 1
allele count: 1
allele frequency: 8.847365254627173e-6
allele num: 113028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1170C>T
  hgvsp: ENST00000272117.3:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1170C>T
  hgvsp: ENST00000366784.1:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1170C>T
  hgvsp: ENST00000429204.1:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10393
  bin: 3.25e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly390Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

1-226923993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923993
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923993
    reference: chr 1
allele count: 1
allele frequency: 8.805917576611483e-6
allele num: 113560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1167G>A
  hgvsp: ENST00000272117.3:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1167G>A
  hgvsp: ENST00000366784.1:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1167G>A
  hgvsp: ENST00000429204.1:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val389Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

1-226923997-TCAGGCTCCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923988
    reference: chr 1
allele count: 8
allele frequency: 7.006235549639179e-5
allele num: 114184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsp: ENSP00000272117.3:p.Gly385_Pro387del
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsp: ENSP00000411152.1:p.Gly385_Pro387del
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsp: ENSP00000355748.1:p.Gly385_Pro387del
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16930
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly385_Pro387del
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: TCAGGCTCCC
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-226923998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226923998
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226923998
    reference: chr 1
allele count: 1
allele frequency: 8.75457426505349e-6
allele num: 114226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1162G>A
  hgvsp: ENSP00000272117.3:p.Glu388Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1162G>A
  hgvsp: ENSP00000355748.1:p.Glu388Lys
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1162G>A
  hgvsp: ENSP00000411152.1:p.Glu388Lys
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26633
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu388Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-226924001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 226924001
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 226924001
    reference: chr 1
allele count: 1
allele frequency: 8.727526618956187e-6
allele num: 114580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000272117
  ensembl transcript: ENST00000272117
  gene symbol: ITPKB
  hgvsc: ENST00000272117.3:c.1159C>T
  hgvsp: ENSP00000272117.3:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000411152
  ensembl transcript: ENST00000429204
  gene symbol: ITPKB
  hgvsc: ENST00000429204.1:c.1159C>T
  hgvsp: ENSP00000411152.1:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/6179
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143772
  ensembl protein: ENSP00000355748
  ensembl transcript: ENST00000366784
  gene symbol: ITPKB
  hgvsc: ENST00000366784.1:c.1159C>T
  hgvsp: ENSP00000355748.1:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/6179
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro387Ser
num of homozygotes: 0
population: East Asian
reference allele: G

GenotypeQuality
all individuals: 2384
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.042935824483462e-5
allele num: 65726
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.923139e6

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 3.311e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526904049349539e-5
allele num: 65492
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.914489e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.281e0

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.692e0

QD
type: SiteQuality
SIO_000300: 1.233e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 7.0e-1

GenotypeQuality
all individuals: 3332
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65458
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: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.96e0

DP
type: SiteQuality
SIO_000300: 1.91387e6

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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European (Non-Finnish)
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East Asian
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Other
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African
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South Asian
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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MQRankSum
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FS
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.540404818386272e-5
allele num: 64918
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European (Finnish)
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African
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East Asian
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Latino
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Other
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South Asian
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VQSLOD
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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GenotypeQuality
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variant carriers: 0

East Asian
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South Asian
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allele frequency: 1.86312259346665e-4
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Other
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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European (Finnish)
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VQSLOD
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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Latino
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Other
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European (Non-Finnish)
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ReadPosRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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QD
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MQ
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GenotypeQuality
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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allele frequency: 0.0e0
allele num: 11512
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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East Asian
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Other
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Other
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South Asian
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QD
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FS
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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African
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European (Finnish)
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Other
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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Latino
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East Asian
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African
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South Asian
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Other
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European (Finnish)
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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Other
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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South Asian
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MQ
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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European (Finnish)
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Other
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East Asian
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South Asian
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African
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European (Non-Finnish)
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Latino
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QD
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

African
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East Asian
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.593523918794021e-5
allele num: 62754
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South Asian
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InbreedingCoeff
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DP
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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South Asian
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allele frequency: 7.401924500370096e-5
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European (Non-Finnish)
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Latino
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Other
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African
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East Asian
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European (Finnish)
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.601845325815339e-5
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East Asian
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African
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South Asian
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Other
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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QD
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 61928
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Latino
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Other
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allele frequency: 0.0e0
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DP
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61492
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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African
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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DP
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ReadPosRankSum
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MQ
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MQRankSum
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8720
num of homozygotes: 0

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

East Asian
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.625223468226881e-5
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61530
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Other
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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East Asian
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allele num: 8410
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South Asian
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.627074520013016e-5
allele num: 61460
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African
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Other
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Latino
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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DP
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.627233377811046e-5
allele num: 61454
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Latino
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South Asian
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East Asian
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Other
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European (Finnish)
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African
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ClippingRankSum
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Other
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Latino
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MQ
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ClippingRankSum
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MQRankSum
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FS
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DP
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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Other
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East Asian
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Latino
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Other
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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Latino
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African
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Other
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European (Non-Finnish)
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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DP
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Non-Finnish)
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Other
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African
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allele frequency: 2.335357309668379e-4
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.65338447802652e-5
allele num: 60482
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

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

Other
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South Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 4.968697207592169e-5
allele num: 60378
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.667389201987528e-5
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African
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQ
type: SiteQuality
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FS
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DP
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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Latino
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European (Non-Finnish)
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allele frequency: 1.669337606837607e-5
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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MQ
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
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Latino
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59292
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African
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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FS
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.685374321636835e-5
allele num: 59334
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African
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Other
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South Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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African
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allele frequency: 1.191327138432213e-4
allele num: 8394
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.688447641238645e-5
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East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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variant carriers: 0

Latino
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South Asian
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African
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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FS
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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Other
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European (Finnish)
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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DP
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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Other
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MQRankSum
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MQ
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FS
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

Latino
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European (Non-Finnish)
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South Asian
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Other
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African
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East Asian
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European (Finnish)
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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MQ
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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Other
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South Asian
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MQRankSum
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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SIO_000300: 1.192e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.386065378191362e-4
allele num: 8382
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59008
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.684169e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.230314960629921e-4
allele num: 8128
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.695950071229903e-5
allele num: 58964
num of homozygotes: 0

MQ
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.681328e6

QD
type: SiteQuality
SIO_000300: 1.235e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.693078694297711e-5
allele num: 59064
num of homozygotes: 0

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.763e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.691017316017316e-5
allele num: 59136
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9048
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

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

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 1.682146e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59308
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.105460977227504e-4
allele num: 9046
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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 8.426871608184177e-5
allele num: 59334
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.759e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

DP
type: SiteQuality
SIO_000300: 1.687157e6

FS
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 2
allele frequency: 2.327746741154562e-4
allele num: 8592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59594
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 6.650410108623365e-4
allele num: 9022
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.26e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59684
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.5597e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 1.698103e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60404
num of homozygotes: 0

African
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East Asian
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allele frequency: 1.100244498777506e-3
allele num: 8180
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South Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 60848
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

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

East Asian
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Other
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African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.643439389955299e-5
allele num: 60848
num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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num of homozygotes: 0

South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 6.501950585175553e-5
allele num: 61520
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele num: 9070
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BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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VQSLOD
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FS
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ClippingRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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Other
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African
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South Asian
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.604930346022983e-5
allele num: 62308
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.77468e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 2.991e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 158

European (Finnish)
type: Population
allele count: 2867
allele frequency: 4.346573681018799e-1
allele num: 6596
num of homozygotes: 643

African
type: Population
allele count: 5618
allele frequency: 5.844777361631294e-1
allele num: 9612
num of homozygotes: 1594

Latino
type: Population
allele count: 8437
allele frequency: 7.35827664399093e-1
allele num: 11466
num of homozygotes: 3164

South Asian
type: Population
allele count: 5361
allele frequency: 5.623033354310887e-1
allele num: 9534
num of homozygotes: 1490

Other
type: Population
allele count: 414
allele frequency: 5.253807106598984e-1
allele num: 788
num of homozygotes: 107

East Asian
type: Population
allele count: 5669
allele frequency: 6.685141509433963e-1
allele num: 8480
num of homozygotes: 1882

European (Non-Finnish)
type: Population
allele count: 29883
allele frequency: 4.719809204915185e-1
allele num: 63314
num of homozygotes: 7092

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 2.181e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.38e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

DP
type: SiteQuality
SIO_000300: 2.899638e6

GenotypeQuality
all individuals: 879
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63302
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.042970379641218e-4
allele num: 9588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.201974e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

QD
type: SiteQuality
SIO_000300: 2.634e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

GenotypeQuality
all individuals: 310
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579180089697429e-5
allele num: 63324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
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: 9588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.728e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

FS
type: SiteQuality
SIO_000300: 8.914e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.798e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 2.202889e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.122e1

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.742767514813524e-4
allele num: 11476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.798e0

DP
type: SiteQuality
SIO_000300: 2.202889e6

QD
type: SiteQuality
SIO_000300: 1.122e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 8.914e0

VQSLOD
type: SiteQuality
SIO_000300: -2.728e-1

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579030475288173e-5
allele num: 63330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
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: 9592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.265e0

QD
type: SiteQuality
SIO_000300: 2.744e1

DP
type: SiteQuality
SIO_000300: 2.203126e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

FS
type: SiteQuality
SIO_000300: 2.475e0

MQ
type: SiteQuality
SIO_000300: 5.837e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578083575306148e-5
allele num: 63368
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 3.452e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

DP
type: SiteQuality
SIO_000300: 2.206383e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

QD
type: SiteQuality
SIO_000300: 1.367e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeQuality
all individuals: 768
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63368
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.042752867570386e-4
allele num: 9590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.452e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

QD
type: SiteQuality
SIO_000300: 1.367e1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

DP
type: SiteQuality
SIO_000300: 2.206383e6

GenotypeQuality
all individuals: 583
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.01667344448963e-4
allele num: 9836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63470
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.35e-1

FS
type: SiteQuality
SIO_000300: 6.556e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

QD
type: SiteQuality
SIO_000300: 1.38e1

DP
type: SiteQuality
SIO_000300: 2.211127e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

GenotypeQuality
all individuals: 25744
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 39
allele frequency: 3.394255874673629e-3
allele num: 11490
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10408
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.289e1

DP
type: SiteQuality
SIO_000300: 2.220365e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

GenotypeQuality
all individuals: 6034
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10408
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.569612305760477e-5
allele num: 63710
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

QD
type: SiteQuality
SIO_000300: 1.289e1

DP
type: SiteQuality
SIO_000300: 2.220365e6

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

FS
type: SiteQuality
SIO_000300: 6.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63900
num of homozygotes: 0

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

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

African
type: Population
allele count: 18
allele frequency: 1.861427094105481e-3
allele num: 9670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.225685e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.354e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.359e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564945226917058e-5
allele num: 63900
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.225685e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.354e0

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeQuality
all individuals: 6065
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.091634957270289e-4
allele num: 64124
num of homozygotes: 0

South Asian
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allele count: 11
allele frequency: 9.453420419388106e-4
allele num: 11636
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.748e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 2.230694e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64138
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.555783709787816e-5
allele num: 11688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.031e0

DP
type: SiteQuality
SIO_000300: 2.230481e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.693e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.589e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeQuality
all individuals: 769
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556468683850081e-5
allele num: 64248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12052
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.73e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 2.218e0

QD
type: SiteQuality
SIO_000300: 1.525e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 2.234696e6

GenotypeQuality
all individuals: 319
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.08668653750621e-4
allele num: 64416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.27e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 9.273999999999999e0

DP
type: SiteQuality
SIO_000300: 2.239025e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

VQSLOD
type: SiteQuality
SIO_000300: -7.449e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e0

QD
type: SiteQuality
SIO_000300: 3.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

GenotypeQuality
all individuals: 1420
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55265037418874e-5
allele num: 64406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12556
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

DP
type: SiteQuality
SIO_000300: 2.239222e6

QD
type: SiteQuality
SIO_000300: 1.107e1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

FS
type: SiteQuality
SIO_000300: 5.638e0

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.683e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

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