9-127994828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994828
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994828
    reference: chr 9
allele count: 2
allele frequency: 1.744652639659444e-5
allele num: 114636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*283-47C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.677-47C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.524-47C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.677-47C>T
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13620
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

9-127994841-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994841
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994841
    reference: chr 9
allele count: 1
allele frequency: 8.675284115554785e-6
allele num: 115270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.524-34A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.677-34A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.677-34A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*283-34A>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-127994847-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994847
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994847
    reference: chr 9
allele count: 1
allele frequency: 8.65830851284893e-6
allele num: 115496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.524-28C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*283-28C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.677-28C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.677-28C>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13650
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

9-127994847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994847
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994847
    reference: chr 9
allele count: 19
allele frequency: 1.645078617441297e-4
allele num: 115496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.524-28C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*283-28C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.677-28C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.677-28C>T
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13650
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24436
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

9-127994848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994848
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994848
    reference: chr 9
allele count: 67
allele frequency: 5.790137753426552e-4
allele num: 115714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.524-27G>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.677-27G>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*283-27G>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.677-27G>A
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13671
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24449
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9806
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 9.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

9-127994855-CTCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994855
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994851
    reference: chr 9
allele count: 4
allele frequency: 3.436189952580579e-5
allele num: 116408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.524-12_524-9delTTCT
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.677-12_677-9delTTCT
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*283-12_*283-9delTTCT
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.677-12_677-9delTTCT
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24601
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: CTCTT
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

9-127994859-TTCTTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994859
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994853
    reference: chr 9
allele count: 3
allele frequency: 2.56568144499179e-5
allele num: 116928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.524-11_524-6delTCTCTT
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*283-11_*283-6delTCTCTT
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.677-11_677-6delTCTCTT
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.677-11_677-6delTCTCTT
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33730
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: TTCTTTC
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

9-127994863-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994863
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994863
    reference: chr 9
allele count: 1
allele frequency: 8.519193743504115e-6
allele num: 117382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.677-12T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*283-12T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.524-12T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.677-12T>C
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

9-127994878-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994878
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994878
    reference: chr 9
allele count: 1
allele frequency: 8.388276544701125e-6
allele num: 119214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.527A>G
  hgvsp: ENSP00000259460.8:p.Asp176Gly
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.680A>G
  hgvsp: ENSP00000377683.4:p.Asp227Gly
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*286A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.680A>G
  hgvsp: ENSP00000362639.3:p.Asp227Gly
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp227Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

9-127994889-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994889
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994889
    reference: chr 9
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*297C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.691C>T
  hgvsp: ENSP00000362639.3:p.Gln231Ter
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.538C>T
  hgvsp: ENSP00000259460.8:p.Gln180Ter
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.691C>T
  hgvsp: ENSP00000377683.4:p.Gln231Ter
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10092
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln231Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

9-127994901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994901
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994901
    reference: chr 9
allele count: 4
allele frequency: 3.312190517198549e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.703C>T
  hgvsp: ENSP00000377683.4:p.Pro235Ser
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*309C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.550C>T
  hgvsp: ENSP00000259460.8:p.Pro184Ser
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.703C>T
  hgvsp: ENSP00000362639.3:p.Pro235Ser
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25638
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro235Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

9-127994902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994902
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994902
    reference: chr 9
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.551C>T
  hgvsp: ENSP00000259460.8:p.Pro184Leu
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.704C>T
  hgvsp: ENSP00000377683.4:p.Pro235Leu
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*310C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.704C>T
  hgvsp: ENSP00000362639.3:p.Pro235Leu
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2991
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genotype quality: GenotypeQuality
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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: 3546
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro235Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/9-127994904-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994904
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994904
    reference: chr 9
allele count: 3
allele frequency: 2.481430627471092e-5
allele num: 120898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.553A>C
  hgvsp: ENSP00000259460.8:p.Thr185Pro
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.706A>C
  hgvsp: ENSP00000362639.3:p.Thr236Pro
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.706A>C
  hgvsp: ENSP00000377683.4:p.Thr236Pro
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*312A>C
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13767
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25710
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Thr236Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-127994912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994912
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994912
    reference: chr 9
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*320T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.561T>C
  hgvsp: ENST00000259460.8:c.561T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.714T>C
  hgvsp: ENST00000373538.3:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.714T>C
  hgvsp: ENST00000394125.4:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala238Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/9-127994921-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994921
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994921
    reference: chr 9
allele count: 5
allele frequency: 4.124051468162323e-5
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.570A>C
  hgvsp: ENST00000259460.8:c.570A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.723A>C
  hgvsp: ENST00000394125.4:c.723A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*329A>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.723A>C
  hgvsp: ENST00000373538.3:c.723A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13783
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala241Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

9-127994934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994934
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994934
    reference: chr 9
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.736C>T
  hgvsp: ENSP00000362639.3:p.His246Tyr
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*342C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.583C>T
  hgvsp: ENSP00000259460.8:p.His195Tyr
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.736C>T
  hgvsp: ENSP00000377683.4:p.His246Tyr
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His246Tyr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

9-127994936-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994936
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994936
    reference: chr 9
allele count: 2
allele frequency: 1.649130908011478e-5
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.738C>G
  hgvsp: ENSP00000362639.3:p.His246Gln
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.585C>G
  hgvsp: ENSP00000259460.8:p.His195Gln
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*344C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.738C>G
  hgvsp: ENSP00000377683.4:p.His246Gln
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His246Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

9-127994947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994947
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994947
    reference: chr 9
allele count: 116
allele frequency: 9.565274754271389e-4
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.749C>T
  hgvsp: ENSP00000362639.3:p.Ala250Val
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*355C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.596C>T
  hgvsp: ENSP00000259460.8:p.Ala199Val
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.749C>T
  hgvsp: ENSP00000377683.4:p.Ala250Val
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11933
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25923
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala250Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

9-127994949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994949
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994949
    reference: chr 9
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.598A>G
  hgvsp: ENSP00000259460.8:p.Met200Val
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.751A>G
  hgvsp: ENSP00000362639.3:p.Met251Val
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*357A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.751A>G
  hgvsp: ENSP00000377683.4:p.Met251Val
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Met251Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

9-127994950-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994950
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994949
    reference: chr 9
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.755delG
  hgvsp: ENSP00000377683.4:p.Gly252GlufsTer10
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*361delG
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.602delG
  hgvsp: ENSP00000259460.8:p.Gly201GlufsTer10
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.755delG
  hgvsp: ENSP00000362639.3:p.Gly252GlufsTer10
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly252GlufsTer10
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: TG
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

9-127994952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994952
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994952
    reference: chr 9
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*360G>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.754G>A
  hgvsp: ENSP00000377683.4:p.Gly252Arg
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.754G>A
  hgvsp: ENSP00000362639.3:p.Gly252Arg
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.601G>A
  hgvsp: ENSP00000259460.8:p.Gly201Arg
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly252Arg
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

9-127994957-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994957
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994957
    reference: chr 9
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.759A>T
  hgvsp: ENSP00000377683.4:p.Lys253Asn
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*365A>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.759A>T
  hgvsp: ENSP00000362639.3:p.Lys253Asn
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.606A>T
  hgvsp: ENSP00000259460.8:p.Lys202Asn
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys253Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-127994958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994958
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994958
    reference: chr 9
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.760C>T
  hgvsp: ENSP00000362639.3:p.His254Tyr
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.607C>T
  hgvsp: ENSP00000259460.8:p.His203Tyr
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.760C>T
  hgvsp: ENSP00000377683.4:p.His254Tyr
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*366C>T
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His254Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

9-127994958-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994958
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994956
    reference: chr 9
allele count: 7
allele frequency: 5.772719775688603e-5
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.761_762delAT
  hgvsp: ENSP00000362639.3:p.His254ArgfsTer30
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.608_609delAT
  hgvsp: ENSP00000259460.8:p.His203ArgfsTer30
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.761_762delAT
  hgvsp: ENSP00000377683.4:p.His254ArgfsTer30
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*367_*368delAT
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 36975
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 9.75e1
  variant carriers: 7
hgvs: p.His254ArgfsTer30
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: CAT
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

9-127994960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994960
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994960
    reference: chr 9
allele count: 11
allele frequency: 9.072314594879915e-5
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*368T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.762T>C
  hgvsp: ENST00000394125.4:c.762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.609T>C
  hgvsp: ENST00000259460.8:c.609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.762T>C
  hgvsp: ENST00000373538.3:c.762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36967
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His254His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

9-127994983-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994983
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994983
    reference: chr 9
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.632C>G
  hgvsp: ENSP00000259460.8:p.Thr211Ser
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.785C>G
  hgvsp: ENSP00000377683.4:p.Thr262Ser
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*391C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.785C>G
  hgvsp: ENSP00000362639.3:p.Thr262Ser
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr262Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

9-127994984-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994984
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994984
    reference: chr 9
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.633T>C
  hgvsp: ENST00000259460.8:c.633T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.786T>C
  hgvsp: ENST00000373538.3:c.786T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.786T>C
  hgvsp: ENST00000394125.4:c.786T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*392T>C
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr262Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

9-127994988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994988
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994988
    reference: chr 9
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*396G>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.790G>A
  hgvsp: ENSP00000377683.4:p.Ala264Thr
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.790G>A
  hgvsp: ENSP00000362639.3:p.Ala264Thr
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.637G>A
  hgvsp: ENSP00000259460.8:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala264Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

9-127994990-A-AGGAGCACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994990
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994998
    reference: chr 9
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: AGGAGCACT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.796_803dupGCACTGGA
  hgvsp: ENSP00000362639.3:p.Asp268GlufsTer41
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.796_803dupGCACTGGA
  hgvsp: ENSP00000377683.4:p.Asp268GlufsTer41
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.643_650dupGCACTGGA
  hgvsp: ENSP00000259460.8:p.Asp217GlufsTer41
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 25833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp268GlufsTer41
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

9-127994995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994995
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994995
    reference: chr 9
allele count: 2
allele frequency: 1.653138483410755e-5
allele num: 120982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.797C>T
  hgvsp: ENSP00000377683.4:p.Ala266Val
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.644C>T
  hgvsp: ENSP00000259460.8:p.Ala215Val
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*403C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.797C>T
  hgvsp: ENSP00000362639.3:p.Ala266Val
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 25794
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 36777
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2124
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9915
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala266Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-127994996-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127994996
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127994996
    reference: chr 9
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.798A>G
  hgvsp: ENST00000373538.3:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*404A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.798A>G
  hgvsp: ENST00000394125.4:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.645A>G
  hgvsp: ENST00000259460.8:c.645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 9918
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 424
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala266Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

9-127995003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995003
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995003
    reference: chr 9
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.652A>G
  hgvsp: ENSP00000259460.8:p.Thr218Ala
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.805A>G
  hgvsp: ENSP00000362639.3:p.Thr269Ala
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.805A>G
  hgvsp: ENSP00000377683.4:p.Thr269Ala
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*411A>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr269Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

9-127995007-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995007
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995007
    reference: chr 9
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.809T>C
  hgvsp: ENSP00000362639.3:p.Met270Thr
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.809T>C
  hgvsp: ENSP00000377683.4:p.Met270Thr
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*415T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.656T>C
  hgvsp: ENSP00000259460.8:p.Met219Thr
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met270Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

9-127995016-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995016
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995016
    reference: chr 9
allele count: 5
allele frequency: 4.150341988179826e-5
allele num: 120472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*424A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.665A>G
  hgvsp: ENSP00000259460.8:p.Tyr222Cys
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.818A>G
  hgvsp: ENSP00000377683.4:p.Tyr273Cys
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.818A>G
  hgvsp: ENSP00000362639.3:p.Tyr273Cys
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13467
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25548
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36272
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr273Cys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-127995021-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995021
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995021
    reference: chr 9
allele count: 1
allele frequency: 8.320852055250457e-6
allele num: 120180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.823A>C
  hgvsp: ENSP00000377683.4:p.Thr275Pro
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.823A>C
  hgvsp: ENSP00000362639.3:p.Thr275Pro
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*429A>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.670A>C
  hgvsp: ENSP00000259460.8:p.Thr224Pro
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr275Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

9-127995022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995022
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995022
    reference: chr 9
allele count: 1
allele frequency: 8.335000333400014e-6
allele num: 119976
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.824C>T
  hgvsp: ENSP00000362639.3:p.Thr275Ile
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.671C>T
  hgvsp: ENSP00000259460.8:p.Thr224Ile
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*430C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.824C>T
  hgvsp: ENSP00000377683.4:p.Thr275Ile
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr275Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

9-127995041-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995041
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995041
    reference: chr 9
allele count: 1
allele frequency: 8.388839487945237e-6
allele num: 119206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.826+17G>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.673+17G>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.826+17G>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*432+17G>T
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

9-127995045-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995045
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995045
    reference: chr 9
allele count: 1
allele frequency: 8.405621679779436e-6
allele num: 118968
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.826+21G>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.826+21G>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.673+21G>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*432+21G>T
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-127995049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995049
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995049
    reference: chr 9
allele count: 1
allele frequency: 8.42800795603951e-6
allele num: 118652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*432+25T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.673+25T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.826+25T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.826+25T>C
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21935
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28923
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genotype quality: GenotypeQuality
  all individuals: 1212
  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: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

9-127995059-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995059
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995059
    reference: chr 9
allele count: 1
allele frequency: 8.493434575073469e-6
allele num: 117738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*432+35T>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.826+35T>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.673+35T>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.826+35T>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5520
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

9-127995060-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995060
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995060
    reference: chr 9
allele count: 1
allele frequency: 8.500510030601837e-6
allele num: 117640
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.826+36C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*432+36C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.673+36C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.826+36C>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18212
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

9-127995061-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995061
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995061
    reference: chr 9
allele count: 1
allele frequency: 8.486370888353305e-6
allele num: 117836
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.826+37T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.826+37T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*432+37T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.673+37T>C
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23388
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

9-127995916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995916
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995916
    reference: chr 9
allele count: 8
allele frequency: 7.098113676290526e-5
allele num: 112706
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-51C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-51C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-51C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-51C>T
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21408
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 52039
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/9-127995920-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995920
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995920
    reference: chr 9
allele count: 1
allele frequency: 8.859279209043553e-6
allele num: 112876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-47C>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-47C>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-47C>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-47C>A
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  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
  all individuals: 3739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52039
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 534
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

9-127995922-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995922
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995922
    reference: chr 9
allele count: 2
allele frequency: 1.770130812667056e-5
allele num: 112986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-45A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-45A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-45A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-45A>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.25e1
  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: 2618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52039
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

9-127995922-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995922
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995922
    reference: chr 9
allele count: 1
allele frequency: 8.85065406333528e-6
allele num: 112986
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-45A>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-45A>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-45A>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-45A>T
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-127995924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995924
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995924
    reference: chr 9
allele count: 1
allele frequency: 8.852534480621802e-6
allele num: 112962
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-43C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-43C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-43C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-43C>T
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52039
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

9-127995926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995926
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995926
    reference: chr 9
allele count: 1
allele frequency: 8.837513477208053e-6
allele num: 113154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-41G>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-41G>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-41G>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-41G>A
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
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  variant carriers: 0
genotype quality: GenotypeQuality
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  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
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52039
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

9-127995929-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995929
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995929
    reference: chr 9
allele count: 1
allele frequency: 8.830022075055188e-6
allele num: 113250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-38A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-38A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-38A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-38A>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/9-127995946-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995946
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995946
    reference: chr 9
allele count: 1
allele frequency: 8.749978125054688e-6
allele num: 114286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-21C>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-21C>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-21C>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-21C>A
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

9-127995946-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995946
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995946
    reference: chr 9
allele count: 6
allele frequency: 5.249986875032813e-5
allele num: 114286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-21C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-21C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-21C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-21C>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52043
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 411
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 559
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

9-127995947-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995947
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995946
    reference: chr 9
allele count: 5
allele frequency: 4.36887265609982e-5
allele num: 114446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-16delT
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-16delT
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-16delT
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-16delT
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21403
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: CT
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

9-127995960-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995960
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995960
    reference: chr 9
allele count: 1
allele frequency: 8.559738414394057e-6
allele num: 116826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-7A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-7A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-7A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-7A>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52042
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
hgvs: c.827-7A>G
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

9-127995961-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995961
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995961
    reference: chr 9
allele count: 1
allele frequency: 8.548908304409527e-6
allele num: 116974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-6A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-6A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-6A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-6A>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21399
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52042
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
hgvs: c.827-6A>G
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-127995962-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995962
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995962
    reference: chr 9
allele count: 1
allele frequency: 8.54350351992345e-6
allele num: 117048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-5C>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-5C>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-5C>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-5C>A
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
hgvs: c.827-5C>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-127995963-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995963
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995963
    reference: chr 9
allele count: 1
allele frequency: 8.524858487349111e-6
allele num: 117304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.827-4A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.827-4A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.674-4A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*433-4A>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52042
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 419
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 71
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2000
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
hgvs: c.827-4A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

9-127995982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995982
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995982
    reference: chr 9
allele count: 1
allele frequency: 8.356732183446986e-6
allele num: 119664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.842C>T
  hgvsp: ENSP00000377683.4:p.Thr281Ile
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.689C>T
  hgvsp: ENSP00000259460.8:p.Thr230Ile
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.842C>T
  hgvsp: ENSP00000362639.3:p.Thr281Ile
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*448C>T
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr281Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

9-127995984-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995984
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995984
    reference: chr 9
allele count: 4
allele frequency: 3.338062254861053e-5
allele num: 119830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*450T>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.844T>G
  hgvsp: ENSP00000362639.3:p.Leu282Val
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.844T>G
  hgvsp: ENSP00000377683.4:p.Leu282Val
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.691T>G
  hgvsp: ENSP00000259460.8:p.Leu231Val
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21396
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu282Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

9-127995993-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995993
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995993
    reference: chr 9
allele count: 9
allele frequency: 7.474338105836627e-5
allele num: 120412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.853T>C
  hgvsp: ENSP00000377683.4:p.Phe285Leu
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.853T>C
  hgvsp: ENSP00000362639.3:p.Phe285Leu
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*459T>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.700T>C
  hgvsp: ENSP00000259460.8:p.Phe234Leu
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21397
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe285Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

9-127995995-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995995
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995995
    reference: chr 9
allele count: 142
allele frequency: 1.177973553664161e-3
allele num: 120546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.702T>G
  hgvsp: ENSP00000259460.8:p.Phe234Leu
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*461T>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.855T>G
  hgvsp: ENSP00000377683.4:p.Phe285Leu
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.855T>G
  hgvsp: ENSP00000362639.3:p.Phe285Leu
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21412
  bin: 9.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 351
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52068
  bin: 9.75e1
  variant carriers: 141
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe285Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

9-127995999-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127995999
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127995999
    reference: chr 9
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.859A>G
  hgvsp: ENSP00000362639.3:p.Thr287Ala
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.706A>G
  hgvsp: ENSP00000259460.8:p.Thr236Ala
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.859A>G
  hgvsp: ENSP00000377683.4:p.Thr287Ala
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*465A>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 9.25e1
  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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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21325
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr287Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

9-127996000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996000
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996000
    reference: chr 9
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.860C>T
  hgvsp: ENSP00000362639.3:p.Thr287Ile
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*466C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.860C>T
  hgvsp: ENSP00000377683.4:p.Thr287Ile
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.707C>T
  hgvsp: ENSP00000259460.8:p.Thr236Ile
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3565
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 52044
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 276
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5765
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr287Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

9-127996006-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996006
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996006
    reference: chr 9
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.866T>A
  hgvsp: ENSP00000377683.4:p.Leu289Gln
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.713T>A
  hgvsp: ENSP00000259460.8:p.Leu238Gln
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.866T>A
  hgvsp: ENSP00000362639.3:p.Leu289Gln
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*472T>A
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21323
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu289Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-127996009-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996009
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996009
    reference: chr 9
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.869C>A
  hgvsp: ENSP00000377683.4:p.Pro290His
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.716C>A
  hgvsp: ENSP00000259460.8:p.Pro239His
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.869C>A
  hgvsp: ENSP00000362639.3:p.Pro290His
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*475C>A
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
hgvs: p.Pro290His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-127996011-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996011
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996011
    reference: chr 9
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.718C>G
  hgvsp: ENSP00000259460.8:p.Pro240Ala
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.871C>G
  hgvsp: ENSP00000377683.4:p.Pro291Ala
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*477C>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.871C>G
  hgvsp: ENSP00000362639.3:p.Pro291Ala
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3910
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 435
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52049
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro291Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

9-127996011-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996011
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996011
    reference: chr 9
allele count: 2
allele frequency: 1.650982334489021e-5
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*477C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.871C>T
  hgvsp: ENSP00000377683.4:p.Pro291Ser
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.871C>T
  hgvsp: ENSP00000362639.3:p.Pro291Ser
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.718C>T
  hgvsp: ENSP00000259460.8:p.Pro240Ser
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21325
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52049
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro291Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

9-127996016-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996016
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996016
    reference: chr 9
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.723A>G
  hgvsp: ENST00000259460.8:c.723A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.876A>G
  hgvsp: ENST00000373538.3:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*482A>G
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.876A>G
  hgvsp: ENST00000394125.4:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52049
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly292Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-127996017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996017
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996017
    reference: chr 9
allele count: 3
allele frequency: 2.474430880897394e-5
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.877C>T
  hgvsp: ENSP00000377683.4:p.Arg293Ter
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.877C>T
  hgvsp: ENSP00000362639.3:p.Arg293Ter
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.724C>T
  hgvsp: ENSP00000259460.8:p.Arg242Ter
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*483C>T
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21324
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg293Ter
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

9-127996018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996018
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996018
    reference: chr 9
allele count: 4
allele frequency: 3.298479400996141e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*484G>A
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.725G>A
  hgvsp: ENSP00000259460.8:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.878G>A
  hgvsp: ENSP00000362639.3:p.Arg293Gln
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.878G>A
  hgvsp: ENSP00000377683.4:p.Arg293Gln
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21323
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52051
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg293Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

9-127996025-C-CCATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996025
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996029
    reference: chr 9
allele count: 3
allele frequency: 2.472310126582278e-5
allele num: 121344
alternate allele: CCATT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*493_*496dupATTC
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.887_890dupATTC
  hgvsp: ENSP00000362639.3:p.Met298PhefsTer14
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.887_890dupATTC
  hgvsp: ENSP00000377683.4:p.Met298PhefsTer14
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.734_737dupATTC
  hgvsp: ENSP00000259460.8:p.Met247PhefsTer14
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21321
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met298PhefsTer14
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/9-127996041-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996041
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996041
    reference: chr 9
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.901A>C
  hgvsp: ENSP00000377683.4:p.Ile301Leu
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*507A>C
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.748A>C
  hgvsp: ENSP00000259460.8:p.Ile250Leu
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.901A>C
  hgvsp: ENSP00000362639.3:p.Ile301Leu
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21320
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52053
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ile301Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

9-127996041-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996041
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996041
    reference: chr 9
allele count: 4
allele frequency: 3.295327225993541e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.748A>T
  hgvsp: ENSP00000259460.8:p.Ile250Phe
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*507A>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.901A>T
  hgvsp: ENSP00000362639.3:p.Ile301Phe
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.901A>T
  hgvsp: ENSP00000377683.4:p.Ile301Phe
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21320
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 782
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genotype quality: GenotypeQuality
  all individuals: 400
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 52053
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
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genotype quality: GenotypeQuality
  all individuals: 6111
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile301Phe
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

9-127996045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996045
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996045
    reference: chr 9
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.905C>T
  hgvsp: ENSP00000362639.3:p.Pro302Leu
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*511C>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.905C>T
  hgvsp: ENSP00000377683.4:p.Pro302Leu
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.752C>T
  hgvsp: ENSP00000259460.8:p.Pro251Leu
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6110
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 403
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro302Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

9-127996046-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996046
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996046
    reference: chr 9
allele count: 11546
allele frequency: 9.512432236484371e-2
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.906A>G
  hgvsp: ENST00000373538.3:c.906A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.906A>G
  hgvsp: ENST00000394125.4:c.906A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.753A>G
  hgvsp: ENST00000259460.8:c.753A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*512A>G
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 7.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 6.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 6.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 8.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 23518
  bin: 9.75e1
  variant carriers: 10041
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 7.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 8.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 9.25e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 53524
  bin: 9.75e1
  variant carriers: 10868
genotype quality: GenotypeQuality
  all individuals: 5228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Pro302Pro
num of homozygotes: 669
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

9-127996056-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127996056
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 127996056
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377683
  ensembl transcript: ENST00000394125
  gene symbol: RABEPK
  hgvsc: ENST00000394125.4:c.916A>T
  hgvsp: ENSP00000377683.4:p.Thr306Ser
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000377682
  ensembl transcript: ENST00000394124
  gene symbol: RABEPK
  hgvsc: ENST00000394124.4:c.*522A>T
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000259460
  ensembl transcript: ENST00000259460
  gene symbol: RABEPK
  hgvsc: ENST00000259460.8:c.763A>T
  hgvsp: ENSP00000259460.8:p.Thr255Ser
  variant of: http://identifiers.org/hgnc/16896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136933
  ensembl protein: ENSP00000362639
  ensembl transcript: ENST00000373538
  gene symbol: RABEPK
  hgvsc: ENST00000373538.3:c.916A>T
  hgvsp: ENSP00000362639.3:p.Thr306Ser
  variant of: http://identifiers.org/hgnc/16896
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr306Ser
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1073
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9704
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30020
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11826
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.079576250307958e-5
allele num: 64944
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.1323e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

QD
type: SiteQuality
SIO_000300: 8.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: -1.721e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.227e0

DP
type: SiteQuality
SIO_000300: 1.697968e6

GenotypeQuality
all individuals: 3535
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12234
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 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: 65120
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

DP
type: SiteQuality
SIO_000300: 1.710255e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.112e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.134e0

GenotypeQuality
all individuals: 2185
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65158
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.064516129032258e-5
allele num: 12400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
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: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 3.075e0

QD
type: SiteQuality
SIO_000300: 1.207e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.717431e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
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: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.771135616173341e-4
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534730961662421e-5
allele num: 65158
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 8.064516129032258e-4
allele num: 12400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 3.075e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 1.717431e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeQuality
all individuals: 862
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 62
allele frequency: 4.933948750596849e-3
allele num: 12566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.133840397472858e-5
allele num: 65212
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.720124e6

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 859
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2180
bin: 8.25e1
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: 65402
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.866976024748647e-4
allele num: 10344
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.264e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.647e1

DP
type: SiteQuality
SIO_000300: 1.728284e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.368e0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13400
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.897990726429675e-4
allele num: 10352
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.972e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.335e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

FS
type: SiteQuality
SIO_000300: 2.014e0

QD
type: SiteQuality
SIO_000300: 7.03e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.162e1

DP
type: SiteQuality
SIO_000300: 1.733377e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34092
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13734
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

DP
type: SiteQuality
SIO_000300: 1.738413e6

FS
type: SiteQuality
SIO_000300: 2.345e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.009e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 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: 1
allele frequency: 1.51267622678042e-5
allele num: 66108
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15034
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.778e0

VQSLOD
type: SiteQuality
SIO_000300: -3.702e-1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

DP
type: SiteQuality
SIO_000300: 1.758312e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

GenotypeQuality
all individuals: 861
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 896
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.387327542156362e-5
allele num: 15656
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.011e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

DP
type: SiteQuality
SIO_000300: 1.769452e6

GenotypeQuality
all individuals: 2700
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 36423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2991
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.858966414673442e-4
allele num: 16138
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

DP
type: SiteQuality
SIO_000300: 1.77751e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.997e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36486
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

DP
type: SiteQuality
SIO_000300: 1.777909e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.679e0

FS
type: SiteQuality
SIO_000300: 2.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 8.17e0

GenotypeQuality
all individuals: 10176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 66542
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.847973389183196e-4
allele num: 16234
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.179e1

FS
type: SiteQuality
SIO_000300: 2.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.778707e6

MQRankSum
type: SiteQuality
SIO_000300: -8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 1059
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
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: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 8.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.781126e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.275e0

VQSLOD
type: SiteQuality
SIO_000300: -1.073e0

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

GenotypeQuality
all individuals: 2993
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 8.75e1
variant carriers: 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: 66642
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.808617041738796e-4
allele num: 10398
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.236e1

FS
type: SiteQuality
SIO_000300: 3.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

DP
type: SiteQuality
SIO_000300: 1.78282e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.833e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 2685
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.638e0

VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.214e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.783006e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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: 8646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 4.198e0

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.783047e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 9.75e1
variant carriers: 116

European (Non-Finnish)
type: Population
allele count: 103
allele frequency: 1.545432721161925e-3
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.562008469449486e-4
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.784991e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.453e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeQuality
all individuals: 2157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 36809
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
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: 11562
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.806e1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: -1.338e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

DP
type: SiteQuality
SIO_000300: 1.780778e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

FS
type: SiteQuality
SIO_000300: 1.059e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

DP
type: SiteQuality
SIO_000300: 1.780723e6

MQ
type: SiteQuality
SIO_000300: 6.015e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.895e0

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.879e0

DP
type: SiteQuality
SIO_000300: 1.780798e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 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: 66638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.267e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.92e-1

DP
type: SiteQuality
SIO_000300: 1.780106e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.780203e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.182e0

FS
type: SiteQuality
SIO_000300: 1.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

QD
type: SiteQuality
SIO_000300: 1.498e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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: 3
allele frequency: 4.502070952638214e-5
allele num: 66636
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.115e0

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.182e0

DP
type: SiteQuality
SIO_000300: 1.780203e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.498e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3484
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GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 10
allele frequency: 9.624639076034649e-4
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.779794e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 2.586e0

MQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 1.324e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10022
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GenotypeQuality
all individuals: 1037
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66596
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16468
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African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.776759e6

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0232e1

ReadPosRankSum
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 16446
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Latino
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allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Other
type: Population
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

South Asian
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allele num: 16430
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
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African
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Other
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allele num: 906
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.00724746639401e-5
allele num: 66506
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
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num of homozygotes: 0

African
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South Asian
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allele frequency: 6.09979260705136e-5
allele num: 16394
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66508
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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QD
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 3.754e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.772216e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.712e1

VQSLOD
type: SiteQuality
SIO_000300: -2.576e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.769526e6

QD
type: SiteQuality
SIO_000300: 1.525e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

FS
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

South Asian
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allele frequency: 6.138735420503377e-5
allele num: 16290
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.767014e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.258e1

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

FS
type: SiteQuality
SIO_000300: 1.535e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.097893432465923e-4
allele num: 16140
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.759181e6

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.315e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.238303181534623e-5
allele num: 16030
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.75059e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.846e0

QD
type: SiteQuality
SIO_000300: 1.164e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.272738677706687e-5
allele num: 15942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.718e0

DP
type: SiteQuality
SIO_000300: 1.745236e6

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
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: 6570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517680983457277e-5
allele num: 65890
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

DP
type: SiteQuality
SIO_000300: 1.692888e6

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65810
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

MQ
type: SiteQuality
SIO_000300: 5.845e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.7188e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.673464e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.098e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.548e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.98e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.533742331288344e-5
allele num: 65200
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.572281e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534683855125844e-5
allele num: 65160
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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East Asian
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allele num: 8530
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

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

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

Latino
type: Population
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allele frequency: 1.749781277340332e-4
allele num: 11430
num of homozygotes: 0

African
type: Population
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allele frequency: 1.003009027081244e-4
allele num: 9970
num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.242197253433208e-5
allele num: 64080
num of homozygotes: 0

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

East Asian
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allele num: 8530
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Other
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.788e1

QD
type: SiteQuality
SIO_000300: 1.488e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 3.25e1
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GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64126
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.00341159943809e-4
allele num: 9966
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.68e0

DP
type: SiteQuality
SIO_000300: 5.071019e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

QD
type: SiteQuality
SIO_000300: 1.548e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.11779011036977e-5
allele num: 64148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
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: 832
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

FS
type: SiteQuality
SIO_000300: 1.677e0

DP
type: SiteQuality
SIO_000300: 5.072175e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.821e1

QD
type: SiteQuality
SIO_000300: 1.53e1

VQSLOD
type: SiteQuality
SIO_000300: -1.627e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 6.25e1
variant carriers: 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: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558895055184885e-5
allele num: 64148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

MQ
type: SiteQuality
SIO_000300: 5.821e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.072175e6

FS
type: SiteQuality
SIO_000300: 1.677e0

QD
type: SiteQuality
SIO_000300: 1.53e1

VQSLOD
type: SiteQuality
SIO_000300: -1.627e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559040878051823e-5
allele num: 64142
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: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.775e0

QD
type: SiteQuality
SIO_000300: 1.29e1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 3.839e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

MQ
type: SiteQuality
SIO_000300: 5.816e1

DP
type: SiteQuality
SIO_000300: 5.072961e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64188
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: 8542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.603e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.639e0

MQ
type: SiteQuality
SIO_000300: 5.812e1

FS
type: SiteQuality
SIO_000300: 2.918e0

DP
type: SiteQuality
SIO_000300: 5.074299e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.08e0

QD
type: SiteQuality
SIO_000300: 1.351e1

MQRankSum
type: SiteQuality
SIO_000300: -1.836e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 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: 1
allele frequency: 1.557486839236208e-5
allele num: 64206
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.58e0

DP
type: SiteQuality
SIO_000300: 5.075959e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.616e1

VQSLOD
type: SiteQuality
SIO_000300: -6.802e-1

FS
type: SiteQuality
SIO_000300: 7.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

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

GenotypeQuality
all individuals: 52043
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
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: 12334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.982032341784787e-5
allele num: 10018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 6.586e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

DP
type: SiteQuality
SIO_000300: 5.089021e6

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.45e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.982032341784787e-5
allele num: 10018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64482
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: 5
allele frequency: 4.053834927841738e-4
allele num: 12334
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

FS
type: SiteQuality
SIO_000300: 6.586e0

DP
type: SiteQuality
SIO_000300: 5.089021e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 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: 64514
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.016064257028113e-4
allele num: 12450
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

FS
type: SiteQuality
SIO_000300: 3.621e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 5.091038e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14046
num of homozygotes: 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: 1
allele frequency: 1.535013661621589e-5
allele num: 65146
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.634e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.421e1

DP
type: SiteQuality
SIO_000300: 5.113042e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 5.877e1

FS
type: SiteQuality
SIO_000300: 2.709e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
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GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.067137809187279e-5
allele num: 14150
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 5.114493e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.378e1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.719e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

FS
type: SiteQuality
SIO_000300: 7.604e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10084
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: 14204
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533601202343343e-5
allele num: 65206
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.689e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.82e-1

DP
type: SiteQuality
SIO_000300: 5.116233e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.467e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 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: 65296
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 5.118169e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.882e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 1.186e0

QD
type: SiteQuality
SIO_000300: 1.057e1

VQSLOD
type: SiteQuality
SIO_000300: -6.061e-1

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
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: 15818
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: 11510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514967882680887e-5
allele num: 66008
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.287e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

FS
type: SiteQuality
SIO_000300: 9.557e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.722e0

DP
type: SiteQuality
SIO_000300: 5.144398e6

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

VQSLOD
type: SiteQuality
SIO_000300: -2.677e0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52045
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027367401307823e-5
allele num: 66064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.4e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.812e1

DP
type: SiteQuality
SIO_000300: 5.146374e6

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.231e0

GenotypeQuality
all individuals: 52052
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
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: 10262
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.551443375277572e-4
allele num: 16212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66272
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

FS
type: SiteQuality
SIO_000300: 3.246e0

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 5.153191e6

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 100
allele frequency: 1.508022680661117e-3
allele num: 66312
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.602811035918792e-4
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.891807744697412e-4
allele num: 10278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 33
allele frequency: 2.026529108327192e-3
allele num: 16284
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.825e1

DP
type: SiteQuality
SIO_000300: 5.172259e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.606e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.120700208103807e-5
allele num: 16338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
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: 904
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.466e1

VQSLOD
type: SiteQuality
SIO_000300: -2.082e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

FS
type: SiteQuality
SIO_000300: 1.535e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.814e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

DP
type: SiteQuality
SIO_000300: 5.151797e6

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 7.75e1
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: 66406
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.114711997064938e-5
allele num: 16354
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.77e-1

DP
type: SiteQuality
SIO_000300: 5.152414e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.881e0

VQSLOD
type: SiteQuality
SIO_000300: -1.264e0

MQ
type: SiteQuality
SIO_000300: 5.761e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

FS
type: SiteQuality
SIO_000300: 1.839e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
all individuals: 435
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
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: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 5.154997e6

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.827e1

QD
type: SiteQuality
SIO_000300: 1.493e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.776e0

FS
type: SiteQuality
SIO_000300: 6.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.79e-1

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
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: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.861e1

DP
type: SiteQuality
SIO_000300: 5.156349e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.408e0

QD
type: SiteQuality
SIO_000300: 1.271e1

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.83e-2

FS
type: SiteQuality
SIO_000300: 3.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.14e0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
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variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.161e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.723e0

QD
type: SiteQuality
SIO_000300: 1.261e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.13e-2

MQ
type: SiteQuality
SIO_000300: 5.837e1

DP
type: SiteQuality
SIO_000300: 5.157143e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.723e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 5.157143e6

MQ
type: SiteQuality
SIO_000300: 5.837e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.13e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.161e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 0

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

GenotypeQuality
all individuals: 287
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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: 11566
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.94e0

MQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.885e0

FS
type: SiteQuality
SIO_000300: 1.047e0

DP
type: SiteQuality
SIO_000300: 5.157845e6

QD
type: SiteQuality
SIO_000300: 1.164e1

MQ
type: SiteQuality
SIO_000300: 5.835e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.426e0

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

GenotypeQuality
all individuals: 6067
bin: 6.25e1
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GenotypeQuality
all individuals: 286
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variant carriers: 0

GenotypeQuality
all individuals: 52049
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 2
allele frequency: 1.93012931866435e-4
allele num: 10362
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 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: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.158259e6

MQ
type: SiteQuality
SIO_000300: 5.842e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.249e-1

QD
type: SiteQuality
SIO_000300: 1.657e1

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 5.158666e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.089e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 1.123e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.859e1

GenotypeQuality
all individuals: 52052
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

MQRankSum
type: SiteQuality
SIO_000300: -1.358e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 1.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.356e0

DP
type: SiteQuality
SIO_000300: 5.159056e6

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 5.15993e6

MQ
type: SiteQuality
SIO_000300: 5.867e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 383
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994664748373947e-5
allele num: 66726
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.15993e6

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.408e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQ
type: SiteQuality
SIO_000300: 5.867e1

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e0

DP
type: SiteQuality
SIO_000300: 5.159249e6

FS
type: SiteQuality
SIO_000300: 3.748e0

QD
type: SiteQuality
SIO_000300: 1.246e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.751e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.951e0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.309e0

VQSLOD
type: SiteQuality
SIO_000300: -3.222e0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1341
allele frequency: 1.552802223251505e-1
allele num: 8636
num of homozygotes: 109

European (Finnish)
type: Population
allele count: 643
allele frequency: 9.721802237677653e-2
allele num: 6614
num of homozygotes: 26

European (Non-Finnish)
type: Population
allele count: 5198
allele frequency: 7.789599880113891e-2
allele num: 66730
num of homozygotes: 200

South Asian
type: Population
allele count: 1793
allele frequency: 1.085876937984496e-1
allele num: 16512
num of homozygotes: 111

Other
type: Population
allele count: 91
allele frequency: 1.002202643171806e-1
allele num: 908
num of homozygotes: 6

African
type: Population
allele count: 2070
allele frequency: 1.990001922707172e-1
allele num: 10402
num of homozygotes: 208

Latino
type: Population
allele count: 410
allele frequency: 3.541810642709053e-2
allele num: 11576
num of homozygotes: 9

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

DP
type: SiteQuality
SIO_000300: 5.932559e6

QD
type: SiteQuality
SIO_000300: 1.687e1