2-73675701-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675701
    reference: chr 2
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2044T>G
  hgvsp: ENSP00000264448.6:p.Leu682Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2044T>G
  hgvsp: ENSP00000366944.1:p.Leu682Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1918T>G
  hgvsp: ENSP00000386627.1:p.Leu640Val
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30665
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu682Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-73675706-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675706
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675706
    reference: chr 2
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2049A>C
  hgvsp: ENST00000264448.6:c.2049A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2049A>C
  hgvsp: ENST00000377715.1:c.2049A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1923A>C
  hgvsp: ENST00000409009.1:c.1923A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro683Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

2-73675708-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675708
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675708
    reference: chr 2
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2051A>G
  hgvsp: ENSP00000366944.1:p.Asp684Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2051A>G
  hgvsp: ENSP00000264448.6:p.Asp684Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1925A>G
  hgvsp: ENSP00000386627.1:p.Asp642Gly
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30665
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 355
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  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
  all individuals: 732
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 307
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 316
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55069
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp684Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-73675711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675711
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675711
    reference: chr 2
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2054G>A
  hgvsp: ENSP00000366944.1:p.Gly685Asp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1928G>A
  hgvsp: ENSP00000386627.1:p.Gly643Asp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2054G>A
  hgvsp: ENSP00000264448.6:p.Gly685Asp
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 192
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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
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  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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genotype quality: GenotypeQuality
  all individuals: 2789
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 350
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly685Asp
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: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

2-73675713-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675713
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675713
    reference: chr 2
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2056C>T
  hgvsp: ENSP00000264448.6:p.His686Tyr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1930C>T
  hgvsp: ENSP00000386627.1:p.His644Tyr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2056C>T
  hgvsp: ENSP00000366944.1:p.His686Tyr
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30745
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55135
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His686Tyr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

2-73675717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675717
    reference: chr 2
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1934T>C
  hgvsp: ENSP00000386627.1:p.Leu645Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2060T>C
  hgvsp: ENSP00000366944.1:p.Leu687Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2060T>C
  hgvsp: ENSP00000264448.6:p.Leu687Pro
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30745
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu687Pro
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: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

2-73675719-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675719
    reference: chr 2
allele count: 26
allele frequency: 2.154529483907322e-4
allele num: 120676
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2062A>G
  hgvsp: ENSP00000264448.6:p.Thr688Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2062A>G
  hgvsp: ENSP00000366944.1:p.Thr688Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1936A>G
  hgvsp: ENSP00000386627.1:p.Thr646Ala
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30753
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55137
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr688Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-73675720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675720
    reference: chr 2
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2063C>T
  hgvsp: ENSP00000264448.6:p.Thr688Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2063C>T
  hgvsp: ENSP00000366944.1:p.Thr688Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1937C>T
  hgvsp: ENSP00000386627.1:p.Thr646Ile
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30751
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr688Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-73675725-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675725
    reference: chr 2
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2068C>G
  hgvsp: ENSP00000366944.1:p.Gln690Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2068C>G
  hgvsp: ENSP00000264448.6:p.Gln690Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1942C>G
  hgvsp: ENSP00000386627.1:p.Gln648Glu
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30751
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln690Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-73675740-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675739
    reference: chr 2
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1958delC
  hgvsp: ENSP00000386627.1:p.Ser653Ter
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2084delC
  hgvsp: ENSP00000366944.1:p.Ser695Ter
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2084delC
  hgvsp: ENSP00000264448.6:p.Ser695Ter
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30752
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser695Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: TC
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-73675748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675748
    reference: chr 2
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1965G>A
  hgvsp: ENST00000409009.1:c.1965G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2091G>A
  hgvsp: ENST00000264448.6:c.2091G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2091G>A
  hgvsp: ENST00000377715.1:c.2091G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30752
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val697Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-73675753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675753
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675753
    reference: chr 2
allele count: 2
allele frequency: 1.657055743355207e-5
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2096G>A
  hgvsp: ENSP00000366944.1:p.Gly699Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1970G>A
  hgvsp: ENSP00000386627.1:p.Gly657Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2096G>A
  hgvsp: ENSP00000264448.6:p.Gly699Glu
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30754
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55133
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly699Glu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-73675757-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675757
    reference: chr 2
allele count: 6
allele frequency: 4.971084856418499e-5
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2100A>C
  hgvsp: ENST00000377715.1:c.2100A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2100A>C
  hgvsp: ENST00000264448.6:c.2100A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1974A>C
  hgvsp: ENST00000409009.1:c.1974A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30756
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55133
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro700Pro
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-73675761-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675761
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675761
    reference: chr 2
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1978G>C
  hgvsp: ENSP00000386627.1:p.Asp660His
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2104G>C
  hgvsp: ENSP00000366944.1:p.Asp702His
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2104G>C
  hgvsp: ENSP00000264448.6:p.Asp702His
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp702His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-73675776-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675776
    reference: chr 2
allele count: 38
allele frequency: 3.148405912374892e-4
allele num: 120696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1993A>G
  hgvsp: ENSP00000386627.1:p.Thr665Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2119A>G
  hgvsp: ENSP00000366944.1:p.Thr707Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2119A>G
  hgvsp: ENSP00000264448.6:p.Thr707Ala
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30775
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55136
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr707Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-73675777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675777
    reference: chr 2
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2120C>T
  hgvsp: ENSP00000264448.6:p.Thr707Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2120C>T
  hgvsp: ENSP00000366944.1:p.Thr707Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1994C>T
  hgvsp: ENSP00000386627.1:p.Thr665Ile
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr707Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-73675779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675779
    reference: chr 2
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2122G>A
  hgvsp: ENSP00000366944.1:p.Ala708Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1996G>A
  hgvsp: ENSP00000386627.1:p.Ala666Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2122G>A
  hgvsp: ENSP00000264448.6:p.Ala708Thr
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala708Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-73675782-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675782
    reference: chr 2
allele count: 4
allele frequency: 3.314221323699997e-5
allele num: 120692
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2125A>G
  hgvsp: ENSP00000264448.6:p.Thr709Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2125A>G
  hgvsp: ENSP00000366944.1:p.Thr709Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.1999A>G
  hgvsp: ENSP00000386627.1:p.Thr667Ala
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30777
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 69
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genotype quality: GenotypeQuality
  all individuals: 60
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55139
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 189
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genotype quality: GenotypeQuality
  all individuals: 74
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr709Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

2-73675785-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675785
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675785
    reference: chr 2
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2002G>C
  hgvsp: ENSP00000386627.1:p.Val668Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2128G>C
  hgvsp: ENSP00000366944.1:p.Val710Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2128G>C
  hgvsp: ENSP00000264448.6:p.Val710Leu
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30777
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55139
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val710Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

2-73675787-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675785
    reference: chr 2
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2135_2136delCT
  hgvsp: ENSP00000366944.1:p.Ser712TyrfsTer6
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2135_2136delCT
  hgvsp: ENSP00000264448.6:p.Ser712TyrfsTer6
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2009_2010delCT
  hgvsp: ENSP00000386627.1:p.Ser670TyrfsTer6
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30777
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 77
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genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 56
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genotype quality: GenotypeQuality
  all individuals: 81
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55139
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser712TyrfsTer6
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: ACT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

2-73675788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675788
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675788
    reference: chr 2
allele count: 2
allele frequency: 1.657055743355207e-5
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2131C>T
  hgvsp: ENSP00000264448.6:p.Leu711Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2005C>T
  hgvsp: ENSP00000386627.1:p.Leu669Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2131C>T
  hgvsp: ENSP00000366944.1:p.Leu711Phe
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30777
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu711Phe
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-73675788-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675788
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675788
    reference: chr 2
allele count: 3
allele frequency: 2.48558361503281e-5
allele num: 120696
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2131C>G
  hgvsp: ENSP00000264448.6:p.Leu711Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2131C>G
  hgvsp: ENSP00000366944.1:p.Leu711Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2005C>G
  hgvsp: ENSP00000386627.1:p.Leu669Val
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1665
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 30777
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 82
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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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genotype quality: GenotypeQuality
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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: 46
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 293
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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: 359
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu711Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-73675790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675790
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675790
    reference: chr 2
allele count: 2
allele frequency: 1.657138122462507e-5
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2133C>T
  hgvsp: ENST00000377715.1:c.2133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2007C>T
  hgvsp: ENST00000409009.1:c.2007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2133C>T
  hgvsp: ENST00000264448.6:c.2133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30777
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
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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: 3588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
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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: 293
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 87
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
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  variant carriers: 0
hgvs: p.Leu711Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-73675792-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675792
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675792
    reference: chr 2
allele count: 2
allele frequency: 1.657000828500414e-5
allele num: 120700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2009C>G
  hgvsp: ENSP00000386627.1:p.Ser670Cys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2135C>G
  hgvsp: ENSP00000366944.1:p.Ser712Cys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2135C>G
  hgvsp: ENSP00000264448.6:p.Ser712Cys
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
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genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
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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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  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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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 55138
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser712Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-73675795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675795
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675795
    reference: chr 2
allele count: 2
allele frequency: 1.657193046417977e-5
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2138C>T
  hgvsp: ENSP00000366944.1:p.Thr713Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2012C>T
  hgvsp: ENSP00000386627.1:p.Thr671Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2138C>T
  hgvsp: ENSP00000264448.6:p.Thr713Ile
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
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genotype depth: GenotypeDepth
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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: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30778
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55137
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr713Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-73675806-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675806
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675806
    reference: chr 2
allele count: 3
allele frequency: 2.485789569626966e-5
allele num: 120686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2149C>G
  hgvsp: ENSP00000366944.1:p.His717Asp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2149C>G
  hgvsp: ENSP00000264448.6:p.His717Asp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2023C>G
  hgvsp: ENSP00000386627.1:p.His675Asp
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30781
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55138
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
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genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 651
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His717Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-73675806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675806
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675806
    reference: chr 2
allele count: 5
allele frequency: 4.142982616044943e-5
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2149C>T
  hgvsp: ENSP00000264448.6:p.His717Tyr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2149C>T
  hgvsp: ENSP00000366944.1:p.His717Tyr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2023C>T
  hgvsp: ENSP00000386627.1:p.His675Tyr
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30781
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 55138
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His717Tyr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

2-73675808-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675808
    reference: chr 2
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2151T>G
  hgvsp: ENSP00000366944.1:p.His717Gln
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2151T>G
  hgvsp: ENSP00000264448.6:p.His717Gln
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2025T>G
  hgvsp: ENSP00000386627.1:p.His675Gln
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30779
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 193
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genotype quality: GenotypeQuality
  all individuals: 95
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genotype quality: GenotypeQuality
  all individuals: 314
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
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genotype quality: GenotypeQuality
  all individuals: 649
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His717Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-73675813-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675813
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675813
    reference: chr 2
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2030A>G
  hgvsp: ENSP00000386627.1:p.Glu677Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2156A>G
  hgvsp: ENSP00000366944.1:p.Glu719Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2156A>G
  hgvsp: ENSP00000264448.6:p.Glu719Gly
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 30779
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 55136
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu719Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-73675816-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675816
    reference: chr 2
allele count: 2
allele frequency: 1.657138122462507e-5
allele num: 120690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2159A>C
  hgvsp: ENSP00000366944.1:p.Lys720Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2033A>C
  hgvsp: ENSP00000386627.1:p.Lys678Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2159A>C
  hgvsp: ENSP00000264448.6:p.Lys720Thr
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
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genotype depth: GenotypeDepth
  all individuals: 30780
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 3183
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1675
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genotype depth: GenotypeDepth
  all individuals: 3804
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genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 811
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genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 75
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genotype quality: GenotypeQuality
  all individuals: 2504
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 98
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genotype quality: GenotypeQuality
  all individuals: 321
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genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 645
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 55137
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 51
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 84
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys720Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-73675817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675817
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675817
    reference: chr 2
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2160G>A
  hgvsp: ENST00000377715.1:c.2160G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2034G>A
  hgvsp: ENST00000409009.1:c.2034G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2160G>A
  hgvsp: ENST00000264448.6:c.2160G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30781
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
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genotype quality: GenotypeQuality
  all individuals: 2489
  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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genotype quality: GenotypeQuality
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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: 293
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 117
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 320
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genotype quality: GenotypeQuality
  all individuals: 193
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genotype quality: GenotypeQuality
  all individuals: 82
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genotype quality: GenotypeQuality
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys720Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-73675824-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675824
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675823
    reference: chr 2
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2173delT
  hgvsp: ENSP00000366944.1:p.Tyr725ThrfsTer53
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2173delT
  hgvsp: ENSP00000264448.6:p.Tyr725ThrfsTer53
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2047delT
  hgvsp: ENSP00000386627.1:p.Tyr683ThrfsTer53
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30781
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
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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: 2743
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genotype depth: GenotypeDepth
  all individuals: 1674
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genotype depth: GenotypeDepth
  all individuals: 282
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3804
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genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 32
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genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 299
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 66
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genotype quality: GenotypeQuality
  all individuals: 320
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genotype quality: GenotypeQuality
  all individuals: 55136
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 658
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr725ThrfsTer53
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: AT
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-73675838-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675838
    reference: chr 2
allele count: 2
allele frequency: 1.657330372236402e-5
allele num: 120676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2181A>G
  hgvsp: ENST00000377715.1:c.2181A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2055A>G
  hgvsp: ENST00000409009.1:c.2055A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2181A>G
  hgvsp: ENST00000264448.6:c.2181A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
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genotype depth: GenotypeDepth
  all individuals: 1809
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30781
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55139
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln727Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-73675841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675841
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675841
    reference: chr 2
allele count: 2
allele frequency: 1.657220509761029e-5
allele num: 120684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2058G>A
  hgvsp: ENST00000409009.1:c.2058G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2184G>A
  hgvsp: ENST00000377715.1:c.2184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2184G>A
  hgvsp: ENST00000264448.6:c.2184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30785
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55138
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu728Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-73675841-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675841
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675841
    reference: chr 2
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2184G>T
  hgvsp: ENSP00000366944.1:p.Glu728Asp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2184G>T
  hgvsp: ENSP00000264448.6:p.Glu728Asp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2058G>T
  hgvsp: ENSP00000386627.1:p.Glu686Asp
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu728Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

2-73675841-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675841
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675840
    reference: chr 2
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2060delT
  hgvsp: ENSP00000386627.1:p.Phe687SerfsTer49
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2186delT
  hgvsp: ENSP00000264448.6:p.Phe729SerfsTer49
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2186delT
  hgvsp: ENSP00000366944.1:p.Phe729SerfsTer49
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe729SerfsTer49
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: GT
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-73675844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675844
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675844
    reference: chr 2
allele count: 72306
allele frequency: 5.990852900724145e-1
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2187C>T
  hgvsp: ENST00000377715.1:c.2187C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2187C>T
  hgvsp: ENST00000264448.6:c.2187C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2061C>T
  hgvsp: ENST00000409009.1:c.2061C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 8.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.75e1
  variant carriers: 450
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 264
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.25e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 48427
  bin: 9.75e1
  variant carriers: 45746
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 172
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 57089
  bin: 9.75e1
  variant carriers: 48914
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 6.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 6.75e1
  variant carriers: 62
hgvs: p.Phe729Phe
num of homozygotes: 22804
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-73675844-CGCAGACAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675844
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675836
    reference: chr 2
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsp: ENSP00000264448.6:p.Ala730SerfsTer4
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsp: ENSP00000366944.1:p.Ala730SerfsTer4
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsp: ENSP00000386627.1:p.Ala688SerfsTer4
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48427
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57089
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala730SerfsTer4
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: CGCAGACAG
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-73675848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675848
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675848
    reference: chr 2
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2191G>A
  hgvsp: ENSP00000264448.6:p.Asp731Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2191G>A
  hgvsp: ENSP00000366944.1:p.Asp731Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2065G>A
  hgvsp: ENSP00000386627.1:p.Asp689Asn
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9036
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp731Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

2-73675850-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675850
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675850
    reference: chr 2
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2067C>G
  hgvsp: ENSP00000386627.1:p.Asp689Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2193C>G
  hgvsp: ENSP00000366944.1:p.Asp731Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2193C>G
  hgvsp: ENSP00000264448.6:p.Asp731Glu
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21977
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp731Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-73675850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675850
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675850
    reference: chr 2
allele count: 3
allele frequency: 2.488882989314396e-5
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2067C>T
  hgvsp: ENST00000409009.1:c.2067C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2193C>T
  hgvsp: ENST00000377715.1:c.2193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2193C>T
  hgvsp: ENST00000264448.6:c.2193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26243
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp731Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-73675872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675872
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675872
    reference: chr 2
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2215C>T
  hgvsp: ENSP00000264448.6:p.Leu739Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2089C>T
  hgvsp: ENSP00000386627.1:p.Leu697Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2215C>T
  hgvsp: ENSP00000366944.1:p.Leu739Phe
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22145
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu739Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-73675874-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675874
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675875
    reference: chr 2
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2218dupA
  hgvsp: ENSP00000366944.1:p.Thr740AsnfsTer2
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2218dupA
  hgvsp: ENSP00000264448.6:p.Thr740AsnfsTer2
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2092dupA
  hgvsp: ENSP00000386627.1:p.Thr698AsnfsTer2
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22135
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr740AsnfsTer2
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

2-73675876-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675876
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675876
    reference: chr 2
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2219C>G
  hgvsp: ENSP00000366944.1:p.Thr740Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2219C>G
  hgvsp: ENSP00000264448.6:p.Thr740Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2093C>G
  hgvsp: ENSP00000386627.1:p.Thr698Ser
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22174
  bin: 6.25e1
  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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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr740Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-73675876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675876
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675876
    reference: chr 2
allele count: 3
allele frequency: 2.486490070616318e-5
allele num: 120652
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2219C>T
  hgvsp: ENSP00000264448.6:p.Thr740Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2093C>T
  hgvsp: ENSP00000386627.1:p.Thr698Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2219C>T
  hgvsp: ENSP00000366944.1:p.Thr740Ile
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26225
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr740Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

2-73675882-T-TTTCAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675882
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675888
    reference: chr 2
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: TTTCAGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2226_2231dupTTCAGC
  hgvsp: ENSP00000366944.1:p.Ser743_Ala744dup
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2100_2105dupTTCAGC
  hgvsp: ENSP00000386627.1:p.Ser701_Ala702dup
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2226_2231dupTTCAGC
  hgvsp: ENSP00000264448.6:p.Ser743_Ala744dup
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser743_Ala744dup
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-73675897-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675897
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675897
    reference: chr 2
allele count: 2
allele frequency: 1.657660047077545e-5
allele num: 120652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2114G>T
  hgvsp: ENSP00000386627.1:p.Gly705Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2240G>T
  hgvsp: ENSP00000366944.1:p.Gly747Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2240G>T
  hgvsp: ENSP00000264448.6:p.Gly747Val
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26226
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly747Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-73675899-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675899
    reference: chr 2
allele count: 2
allele frequency: 1.657522666622466e-5
allele num: 120662
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2242C>A
  hgvsp: ENSP00000264448.6:p.Pro748Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2242C>A
  hgvsp: ENSP00000366944.1:p.Pro748Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2116C>A
  hgvsp: ENSP00000386627.1:p.Pro706Thr
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26226
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22025
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro748Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-73675914-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675914
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675914
    reference: chr 2
allele count: 5
allele frequency: 4.144287514090577e-5
allele num: 120648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2257A>C
  hgvsp: ENSP00000366944.1:p.Thr753Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2257A>C
  hgvsp: ENSP00000264448.6:p.Thr753Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2131A>C
  hgvsp: ENSP00000386627.1:p.Thr711Pro
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26224
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr753Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-73675923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675923
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675923
    reference: chr 2
allele count: 5
allele frequency: 4.14524954402255e-5
allele num: 120620
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2266C>T
  hgvsp: ENSP00000264448.6:p.Pro756Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2140C>T
  hgvsp: ENSP00000386627.1:p.Pro714Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2266C>T
  hgvsp: ENSP00000366944.1:p.Pro756Ser
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro756Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-73675925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675925
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675925
    reference: chr 2
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2268A>G
  hgvsp: ENST00000377715.1:c.2268A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2268A>G
  hgvsp: ENST00000264448.6:c.2268A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2142A>G
  hgvsp: ENST00000409009.1:c.2142A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26215
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro756Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

2-73675937-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675937
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675937
    reference: chr 2
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2280T>C
  hgvsp: ENST00000264448.6:c.2280T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2280T>C
  hgvsp: ENST00000377715.1:c.2280T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2154T>C
  hgvsp: ENST00000409009.1:c.2154T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
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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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genotype quality: GenotypeQuality
  all individuals: 21886
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 599
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genotype quality: GenotypeQuality
  all individuals: 5480
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 103
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 574
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genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser760Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-73675938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675938
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675938
    reference: chr 2
allele count: 2
allele frequency: 1.658319790388379e-5
allele num: 120604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2155A>G
  hgvsp: ENSP00000386627.1:p.Ser719Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2281A>G
  hgvsp: ENSP00000366944.1:p.Ser761Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2281A>G
  hgvsp: ENSP00000264448.6:p.Ser761Gly
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16389
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genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2152
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21915
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 600
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26211
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser761Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-73675939-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675939
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675939
    reference: chr 2
allele count: 4
allele frequency: 3.316859597333245e-5
allele num: 120596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2156G>C
  hgvsp: ENSP00000386627.1:p.Ser719Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2282G>C
  hgvsp: ENSP00000366944.1:p.Ser761Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2282G>C
  hgvsp: ENSP00000264448.6:p.Ser761Thr
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser761Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

2-73675946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675946
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675946
    reference: chr 2
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2163C>T
  hgvsp: ENST00000409009.1:c.2163C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2289C>T
  hgvsp: ENST00000264448.6:c.2289C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2289C>T
  hgvsp: ENST00000377715.1:c.2289C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr763Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-73675950-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675950
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675950
    reference: chr 2
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2293C>A
  hgvsp: ENSP00000264448.6:p.Gln765Lys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2293C>A
  hgvsp: ENSP00000366944.1:p.Gln765Lys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2167C>A
  hgvsp: ENSP00000386627.1:p.Gln723Lys
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
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genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26204
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 66
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln765Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

2-73675960-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675960
    reference: chr 2
allele count: 4
allele frequency: 3.31746479340488e-5
allele num: 120574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2177A>G
  hgvsp: ENSP00000386627.1:p.Lys726Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2303A>G
  hgvsp: ENSP00000366944.1:p.Lys768Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2303A>G
  hgvsp: ENSP00000264448.6:p.Lys768Arg
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 62
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys768Arg
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

2-73675963-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675963
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675963
    reference: chr 2
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2306C>G
  hgvsp: ENSP00000264448.6:p.Pro769Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2180C>G
  hgvsp: ENSP00000386627.1:p.Pro727Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2306C>G
  hgvsp: ENSP00000366944.1:p.Pro769Arg
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro769Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-73675963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675963
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675963
    reference: chr 2
allele count: 5
allele frequency: 4.146349553852788e-5
allele num: 120588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2180C>T
  hgvsp: ENSP00000386627.1:p.Pro727Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2306C>T
  hgvsp: ENSP00000264448.6:p.Pro769Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2306C>T
  hgvsp: ENSP00000366944.1:p.Pro769Leu
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26199
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21857
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro769Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

2-73675973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675973
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675973
    reference: chr 2
allele count: 551
allele frequency: 4.570035166876783e-3
allele num: 120568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2190G>A
  hgvsp: ENST00000409009.1:c.2190G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2316G>A
  hgvsp: ENST00000264448.6:c.2316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2316G>A
  hgvsp: ENST00000377715.1:c.2316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16287
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8881
  bin: 9.75e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26276
  bin: 9.75e1
  variant carriers: 534
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Leu772Leu
num of homozygotes: 16
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-73675976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675976
    reference: chr 2
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2193C>T
  hgvsp: ENST00000409009.1:c.2193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2319C>T
  hgvsp: ENST00000264448.6:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2319C>T
  hgvsp: ENST00000377715.1:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr773Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-73675980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675980
    reference: chr 2
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2197C>T
  hgvsp: ENSP00000386627.1:p.Gln733Ter
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2323C>T
  hgvsp: ENSP00000264448.6:p.Gln775Ter
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2323C>T
  hgvsp: ENSP00000366944.1:p.Gln775Ter
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln775Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/2-73675985-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675985
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675985
    reference: chr 2
allele count: 2
allele frequency: 1.6583472910897e-5
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2328C>A
  hgvsp: ENSP00000366944.1:p.Asp776Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2328C>A
  hgvsp: ENSP00000264448.6:p.Asp776Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2202C>A
  hgvsp: ENSP00000386627.1:p.Asp734Glu
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26183
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp776Glu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-73675986-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675986
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675986
    reference: chr 2
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2329T>G
  hgvsp: ENSP00000366944.1:p.Leu777Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2329T>G
  hgvsp: ENSP00000264448.6:p.Leu777Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2203T>G
  hgvsp: ENSP00000386627.1:p.Leu735Val
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5452
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu777Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-73675993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675993
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675993
    reference: chr 2
allele count: 2
allele frequency: 1.658264791721942e-5
allele num: 120608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2210A>G
  hgvsp: ENSP00000386627.1:p.Asp737Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2336A>G
  hgvsp: ENSP00000264448.6:p.Asp779Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2336A>G
  hgvsp: ENSP00000366944.1:p.Asp779Gly
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26182
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp779Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

2-73675996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73675996
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73675996
    reference: chr 2
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2213G>A
  hgvsp: ENSP00000386627.1:p.Ser738Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2339G>A
  hgvsp: ENSP00000366944.1:p.Ser780Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2339G>A
  hgvsp: ENSP00000264448.6:p.Ser780Asn
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser780Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-73676001-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73676001
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73676001
    reference: chr 2
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2344C>G
  hgvsp: ENSP00000264448.6:p.Leu782Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2218C>G
  hgvsp: ENSP00000386627.1:p.Leu740Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2344C>G
  hgvsp: ENSP00000366944.1:p.Leu782Val
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu782Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-73676008-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73676008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73676008
    reference: chr 2
allele count: 279
allele frequency: 2.313010893535176e-3
allele num: 120622
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2351A>G
  hgvsp: ENSP00000264448.6:p.Glu784Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2225A>G
  hgvsp: ENSP00000386627.1:p.Glu742Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2351A>G
  hgvsp: ENSP00000366944.1:p.Glu784Gly
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 9.75e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7905
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26184
  bin: 9.75e1
  variant carriers: 276
genotype quality: GenotypeQuality
  all individuals: 22148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5455
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu784Gly
num of homozygotes: 3
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-73676024-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73676024
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73676024
    reference: chr 2
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2241T>G
  hgvsp: ENST00000409009.1:c.2241T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2367T>G
  hgvsp: ENST00000264448.6:c.2367T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2367T>G
  hgvsp: ENST00000377715.1:c.2367T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22402
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val789Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-73676043-G-GTCTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73676043
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73676047
    reference: chr 2
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: GTCTT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2386_2387insTCTT
  hgvsp: ENSP00000264448.6:p.Ala796ValfsTer3
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2260_2261insTCTT
  hgvsp: ENSP00000386627.1:p.Ala754ValfsTer3
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2386_2387insTCTT
  hgvsp: ENSP00000366944.1:p.Ala796ValfsTer3
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25936
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala796ValfsTer3
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-73676048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73676048
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73676048
    reference: chr 2
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2391C>T
  hgvsp: ENST00000264448.6:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2265C>T
  hgvsp: ENST00000409009.1:c.2265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2391C>T
  hgvsp: ENST00000377715.1:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25936
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp797Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-73676050-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73676050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73676050
    reference: chr 2
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2267A>G
  hgvsp: ENSP00000386627.1:p.Gln756Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2393A>G
  hgvsp: ENSP00000264448.6:p.Gln798Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2393A>G
  hgvsp: ENSP00000366944.1:p.Gln798Arg
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25936
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5495
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln798Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-73676053-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73676053
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73676053
    reference: chr 2
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2396A>C
  hgvsp: ENSP00000366944.1:p.Lys799Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2396A>C
  hgvsp: ENSP00000264448.6:p.Lys799Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2270A>C
  hgvsp: ENSP00000386627.1:p.Lys757Thr
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25936
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys799Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-73676054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73676054
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73676054
    reference: chr 2
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2397G>A
  hgvsp: ENST00000264448.6:c.2397G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2271G>A
  hgvsp: ENST00000409009.1:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2397G>A
  hgvsp: ENST00000377715.1:c.2397G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys799Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-73676067-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73676067
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73676067
    reference: chr 2
allele count: 10
allele frequency: 8.288712431410905e-5
allele num: 120646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2284A>G
  hgvsp: ENSP00000386627.1:p.Thr762Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2410A>G
  hgvsp: ENSP00000366944.1:p.Thr804Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2410A>G
  hgvsp: ENSP00000264448.6:p.Thr804Ala
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25932
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr804Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

2-73676070-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73676070
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73676070
    reference: chr 2
allele count: 210
allele frequency: 1.74028341758515e-3
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.2287G>C
  hgvsp: ENSP00000386627.1:p.Val763Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.2413G>C
  hgvsp: ENSP00000264448.6:p.Val805Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.2413G>C
  hgvsp: ENSP00000366944.1:p.Val805Leu
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 9.75e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25937
  bin: 9.75e1
  variant carriers: 205
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val805Leu
num of homozygotes: 5
population: European (Finnish)
reference allele: G

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 5.823035e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.869e-1

QD
type: SiteQuality
SIO_000300: 7.72e0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

DP
type: SiteQuality
SIO_000300: 5.823046e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

FS
type: SiteQuality
SIO_000300: 1.569e0

QD
type: SiteQuality
SIO_000300: 1.355e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 5.823064e6

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

GenotypeQuality
all individuals: 55136
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.422e0

FS
type: SiteQuality
SIO_000300: 1.398e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 5.829676e6

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

GenotypeQuality
all individuals: 349
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 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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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8622
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
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 frequency: 0.0e0
allele num: 66702
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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Latino
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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
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East Asian
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 4.647e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.448275862068965e-4
allele num: 66700
num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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DP
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ClippingRankSum
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MQ
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MQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

East Asian
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South Asian
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allele frequency: 6.056935190793458e-5
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Latino
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MQ
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.153e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
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African
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allele count: 0
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allele num: 9800
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South Asian
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allele frequency: 6.056935190793458e-5
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European (Finnish)
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allele frequency: 0.0e0
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Other
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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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VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

DP
type: SiteQuality
SIO_000300: 5.830463e6

FS
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.774e0

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.99e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.830257e6

MQ
type: SiteQuality
SIO_000300: 6.047e1

QD
type: SiteQuality
SIO_000300: 1.714e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
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
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
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Other
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allele num: 900
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.988e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.830127e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 5.829705e6

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele num: 9796
num of homozygotes: 0

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

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

East Asian
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allele frequency: 6.955715279387897e-4
allele num: 8626
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Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.830107e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

African
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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: 6614
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Latino
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allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
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South Asian
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Other
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 5.829997e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.301635372501514e-3
allele num: 16510
num of homozygotes: 0

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

InbreedingCoeff
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VQSLOD
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DP
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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num of homozygotes: 0

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

European (Non-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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allele frequency: 1.02082482645978e-4
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South Asian
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Other
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
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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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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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: 66694
num of homozygotes: 0

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

Other
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allele num: 900
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East Asian
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African
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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Other
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South Asian
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African
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East Asian
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allele frequency: 1.159823706796567e-4
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European (Non-Finnish)
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allele frequency: 4.498155756139982e-5
allele num: 66694
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.159823706796567e-4
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African
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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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num of homozygotes: 0

Other
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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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.49934029027228e-5
allele num: 66696
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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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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South Asian
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.320185614849188e-4
allele num: 8620
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European (Finnish)
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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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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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South Asian
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Latino
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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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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66694
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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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: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

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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South Asian
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DP
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MQ
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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: 1.499385252046661e-5
allele num: 66694
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Latino
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allele frequency: 0.0e0
allele num: 11562
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European (Finnish)
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Other
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African
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East Asian
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South Asian
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.499430216517723e-5
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South Asian
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allele frequency: 6.056935190793458e-5
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European (Finnish)
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allele frequency: 0.0e0
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African
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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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East Asian
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Other
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DP
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

African
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num of homozygotes: 0

Latino
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allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

Other
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 5.998260504453708e-5
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European (Finnish)
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QD
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ClippingRankSum
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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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InbreedingCoeff
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FS
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MQ
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 900
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Latino
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European (Finnish)
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African
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South Asian
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East Asian
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European (Non-Finnish)
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
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num of homozygotes: 0

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

African
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European (Non-Finnish)
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Latino
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allele num: 11566
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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DP
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
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East Asian
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.927e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.251e0

QD
type: SiteQuality
SIO_000300: 1.13e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.830798e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

GenotypeQuality
all individuals: 361
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 5.831327e6

VQSLOD
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

FS
type: SiteQuality
SIO_000300: 2.446e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.376e1

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 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: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

DP
type: SiteQuality
SIO_000300: 5.83224e6

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.584e0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

GenotypeQuality
all individuals: 2539
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

DP
type: SiteQuality
SIO_000300: 5.83224e6

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 5.19e-1

GenotypeQuality
all individuals: 2539
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.897e1

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 5.83224e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 16

European (Non-Finnish)
type: Population
allele count: 42027
allele frequency: 6.300521707843607e-1
allele num: 66704
num of homozygotes: 13264

Latino
type: Population
allele count: 6166
allele frequency: 5.332987372426916e-1
allele num: 11562
num of homozygotes: 1610

East Asian
type: Population
allele count: 6674
allele frequency: 7.744256207936876e-1
allele num: 8618
num of homozygotes: 2595

Other
type: Population
allele count: 569
allele frequency: 6.336302895322939e-1
allele num: 898
num of homozygotes: 178

African
type: Population
allele count: 1817
allele frequency: 1.856354720065386e-1
allele num: 9788
num of homozygotes: 187

South Asian
type: Population
allele count: 11014
allele frequency: 6.670300387596899e-1
allele num: 16512
num of homozygotes: 3735

European (Finnish)
type: Population
allele count: 4039
allele frequency: 6.108590441621294e-1
allele num: 6612
num of homozygotes: 1235

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 2.306e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.84e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 1.0600904e7

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.84e-2

QD
type: SiteQuality
SIO_000300: 2.306e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 1.0600904e7

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.808e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.202e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e1

DP
type: SiteQuality
SIO_000300: 3.341245e6

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
all individuals: 2031
bin: 7.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 3.341184e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.361e0

QD
type: SiteQuality
SIO_000300: 1.554e1

GenotypeQuality
all individuals: 2031
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.361e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.554e1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 3.341184e6

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.03e-1

GenotypeQuality
all individuals: 1091
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 3.316877e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.053000000000001e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

DP
type: SiteQuality
SIO_000300: 3.316606e6

MQ
type: SiteQuality
SIO_000300: 6.04e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.481e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

FS
type: SiteQuality
SIO_000300: 2.225e0

GenotypeQuality
all individuals: 577
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

DP
type: SiteQuality
SIO_000300: 3.316395e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.481894150417827e-4
allele num: 8616
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.316395e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.179e1

MQRankSum
type: SiteQuality
SIO_000300: -9.615e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 7.9e0

DP
type: SiteQuality
SIO_000300: 3.315717e6

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.314583e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 1.757e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.754e0

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 3.314208e6

MQRankSum
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.757e0

VQSLOD
type: SiteQuality
SIO_000300: -1.204e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

FS
type: SiteQuality
SIO_000300: 2.635e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeQuality
all individuals: 598
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.04e0

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 1.104e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

DP
type: SiteQuality
SIO_000300: 3.313378e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
all individuals: 26218
bin: 9.75e1
variant carriers: 5

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.502100588164687e-5
allele num: 66648
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.312295e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.05e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.293e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 2024
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
SIO_000300: 1.427e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 9.7e-1

DP
type: SiteQuality
SIO_000300: 3.311372e6

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 896
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.549e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

DP
type: SiteQuality
SIO_000300: 3.309933e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

FS
type: SiteQuality
SIO_000300: 3.091e0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

GenotypeQuality
all individuals: 5484
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.309737e6

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.772e0

FS
type: SiteQuality
SIO_000300: 4.951e0

QD
type: SiteQuality
SIO_000300: 1.51e1

GenotypeQuality
all individuals: 26209
bin: 9.75e1
variant carriers: 4

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 4.639294827186268e-4
allele num: 8622
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

FS
type: SiteQuality
SIO_000300: 4.037e0

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

DP
type: SiteQuality
SIO_000300: 3.309298e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.529e0

QD
type: SiteQuality
SIO_000300: 1.367e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQ
type: SiteQuality
SIO_000300: 5.992e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.985e-1

DP
type: SiteQuality
SIO_000300: 3.308133e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.165e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e0

FS
type: SiteQuality
SIO_000300: 7.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.179e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
all individuals: 2011
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.141e1

FS
type: SiteQuality
SIO_000300: 2.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.817e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 3.30785e6

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
all individuals: 2006
bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.503287399801856e-5
allele num: 66618
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e0

FS
type: SiteQuality
SIO_000300: 1.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.992e1

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

DP
type: SiteQuality
SIO_000300: 3.307443e6

QD
type: SiteQuality
SIO_000300: 1.314e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

Other
type: Population
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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
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num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 3.307025e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.411e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
all individuals: 2010
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
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allele frequency: 5.13136288998358e-4
allele num: 9744
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

DP
type: SiteQuality
SIO_000300: 3.307025e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

GenotypeQuality
all individuals: 2003
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 509
allele frequency: 5.222655448389082e-2
allele num: 9746
num of homozygotes: 16

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200912693647172e-4
allele num: 66616
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 2.766730070897458e-3
allele num: 11566
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 3.315572e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.183e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.660000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
all individuals: 1076
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.398e1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

FS
type: SiteQuality
SIO_000300: 6.153e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.251e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 3.255112e6

GenotypeQuality
all individuals: 5456
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.402e0

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.438e1

DP
type: SiteQuality
SIO_000300: 3.255026e6

FS
type: SiteQuality
SIO_000300: 4.039e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

DP
type: SiteQuality
SIO_000300: 3.255254e6

QD
type: SiteQuality
SIO_000300: 1.273e1

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 1.119e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.838e0

MQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeQuality
all individuals: 1762
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.421e0

DP
type: SiteQuality
SIO_000300: 3.255101e6

QD
type: SiteQuality
SIO_000300: 1.471e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -1.026e-1

FS
type: SiteQuality
SIO_000300: 1.535e0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.722e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 599
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.255181e6

VQSLOD
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.367e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
all individuals: 5456
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.629e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.194e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

DP
type: SiteQuality
SIO_000300: 3.255234e6

QD
type: SiteQuality
SIO_000300: 1.594e1

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.255368e6

VQSLOD
type: SiteQuality
SIO_000300: -1.907e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.316e0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 1.606e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.486e0

QD
type: SiteQuality
SIO_000300: 1.654e1

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 273
allele frequency: 3.166318719554628e-2
allele num: 8622
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502341217433065e-5
allele num: 66632
num of homozygotes: 0

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

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

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

DP
type: SiteQuality
SIO_000300: 3.257017e6

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.47e1

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.454e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 3.212555e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

QD
type: SiteQuality
SIO_000300: 1.55e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 22433
bin: 6.25e1
variant carriers: 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: 9780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.7789e1

MQRankSum
type: SiteQuality
SIO_000300: -1.785e0

VQSLOD
type: SiteQuality
SIO_000300: -4.625e0

MQ
type: SiteQuality
SIO_000300: 5.275e1

DP
type: SiteQuality
SIO_000300: 3.2129e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.331e0

GenotypeQuality
all individuals: 25
bin: 5.75e1
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: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022494887525562e-4
allele num: 9780
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

FS
type: SiteQuality
SIO_000300: 1.635e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.156e1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

DP
type: SiteQuality
SIO_000300: 3.212997e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.175e0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.504e1

FS
type: SiteQuality
SIO_000300: 7.206e0

DP
type: SiteQuality
SIO_000300: 3.212952e6

VQSLOD
type: SiteQuality
SIO_000300: 1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
all individuals: 1082
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.079000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 3.212969e6

QD
type: SiteQuality
SIO_000300: 1.351e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.313e0

VQSLOD
type: SiteQuality
SIO_000300: -2.382e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
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: 8618
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.095e0

FS
type: SiteQuality
SIO_000300: 1.942e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: -3.608e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

DP
type: SiteQuality
SIO_000300: 3.21299e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.076e0

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 8
allele frequency: 6.928806513078123e-4
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
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: 8614
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e0

DP
type: SiteQuality
SIO_000300: 3.213237e6

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.535e1

GenotypeQuality
all individuals: 1758
bin: 7.75e1
variant carriers: 0

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