1-17318792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318792
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318792
    reference: chr 1
allele count: 2
allele frequency: 1.782690079329709e-5
allele num: 112190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1951G>A
  hgvsp: ENSP00000327214.8:p.Ala651Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.361G>A
  hgvsp: ENSP00000421126.1:p.Ala121Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1936G>A
  hgvsp: ENSP00000413307.1:p.Ala646Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1936G>A
  hgvsp: ENSP00000341115.5:p.Ala646Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12346C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala651Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-17318795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318795
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318795
    reference: chr 1
allele count: 1
allele frequency: 8.940705242829554e-6
allele num: 111848
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12343C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1948G>A
  hgvsp: ENSP00000327214.8:p.Glu650Lys
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1933G>A
  hgvsp: ENSP00000413307.1:p.Glu645Lys
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.358G>A
  hgvsp: ENSP00000421126.1:p.Glu120Lys
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1933G>A
  hgvsp: ENSP00000341115.5:p.Glu645Lys
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6396
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1122
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu650Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-17318796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318796
    reference: chr 1
allele count: 3
allele frequency: 2.684419628476323e-5
allele num: 111756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1932C>T
  hgvsp: ENST00000341676.5:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1947C>T
  hgvsp: ENST00000326735.8:c.1947C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.357C>T
  hgvsp: ENST00000503552.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12342G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1932C>T
  hgvsp: ENST00000452699.1:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
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genotype quality: GenotypeQuality
  all individuals: 1906
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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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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro649Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-17318796-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318796
    reference: chr 1
allele count: 13
allele frequency: 1.163248505673073e-4
allele num: 111756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.357C>G
  hgvsp: ENST00000503552.1:c.357C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1932C>G
  hgvsp: ENST00000452699.1:c.1932C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1932C>G
  hgvsp: ENST00000341676.5:c.1932C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1947C>G
  hgvsp: ENST00000326735.8:c.1947C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12342G>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14696
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  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
  all individuals: 18190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 9.75e1
  variant carriers: 11
hgvs: p.Pro649Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-17318802-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318802
    reference: chr 1
allele count: 1
allele frequency: 8.946944618412811e-6
allele num: 111770
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1941T>C
  hgvsp: ENST00000326735.8:c.1941T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1926T>C
  hgvsp: ENST00000341676.5:c.1926T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1926T>C
  hgvsp: ENST00000452699.1:c.1926T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12336A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.351T>C
  hgvsp: ENST00000503552.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr647Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-17318817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318817
    reference: chr 1
allele count: 35
allele frequency: 3.131991051454139e-4
allele num: 111750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1911G>A
  hgvsp: ENST00000452699.1:c.1911G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.336G>A
  hgvsp: ENST00000503552.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1911G>A
  hgvsp: ENST00000341676.5:c.1911G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1926G>A
  hgvsp: ENST00000326735.8:c.1926G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12321C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13663
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19357
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala642Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

1-17318818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318818
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318818
    reference: chr 1
allele count: 7
allele frequency: 6.255920782168839e-5
allele num: 111894
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1925C>T
  hgvsp: ENSP00000327214.8:p.Ala642Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1910C>T
  hgvsp: ENSP00000341115.5:p.Ala637Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1910C>T
  hgvsp: ENSP00000413307.1:p.Ala637Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12320G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.335C>T
  hgvsp: ENSP00000421126.1:p.Ala112Val
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala642Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

1-17318821-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318821
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318821
    reference: chr 1
allele count: 4
allele frequency: 3.564871753738659e-5
allele num: 112206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1907T>C
  hgvsp: ENSP00000413307.1:p.Val636Ala
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.332T>C
  hgvsp: ENSP00000421126.1:p.Val111Ala
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1907T>C
  hgvsp: ENSP00000341115.5:p.Val636Ala
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12317A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1922T>C
  hgvsp: ENSP00000327214.8:p.Val641Ala
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14602
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val641Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-17318836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318836
    reference: chr 1
allele count: 1
allele frequency: 8.887624871129439e-6
allele num: 112516
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12302C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1892G>A
  hgvsp: ENSP00000341115.5:p.Arg631His
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.317G>A
  hgvsp: ENSP00000421126.1:p.Arg106His
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1907G>A
  hgvsp: ENSP00000327214.8:p.Arg636His
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1892G>A
  hgvsp: ENSP00000413307.1:p.Arg631His
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg636His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-17318840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318840
    reference: chr 1
allele count: 1
allele frequency: 8.835327172165185e-6
allele num: 113182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12298G>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1888C>T
  hgvsp: ENSP00000413307.1:p.Gln630Ter
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-3C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1903C>T
  hgvsp: ENSP00000327214.8:p.Gln635Ter
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1888C>T
  hgvsp: ENSP00000341115.5:p.Gln630Ter
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16217
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln635Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-17318843-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318843
    reference: chr 1
allele count: 15
allele frequency: 1.32272799421527e-4
allele num: 113402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1885C>G
  hgvsp: ENSP00000341115.5:p.Leu629Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-6C>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1885C>G
  hgvsp: ENSP00000413307.1:p.Leu629Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1900C>G
  hgvsp: ENSP00000327214.8:p.Leu634Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12295G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16574
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14607
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7198
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu634Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-17318846-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318846
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318846
    reference: chr 1
allele count: 2
allele frequency: 1.762114537444934e-5
allele num: 113500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-9G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1897G>T
  hgvsp: ENSP00000327214.8:p.Ala633Ser
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12292C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1882G>T
  hgvsp: ENSP00000341115.5:p.Ala628Ser
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1882G>T
  hgvsp: ENSP00000413307.1:p.Ala628Ser
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala633Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

1-17318847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318847
    reference: chr 1
allele count: 7
allele frequency: 6.16370808678501e-5
allele num: 113568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1881G>A
  hgvsp: ENST00000452699.1:c.1881G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-10G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1881G>A
  hgvsp: ENST00000341676.5:c.1881G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1896G>A
  hgvsp: ENST00000326735.8:c.1896G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12291C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14921
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser632Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-17318848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318848
    reference: chr 1
allele count: 2
allele frequency: 1.758767455766999e-5
allele num: 113716
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12290G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1895C>T
  hgvsp: ENSP00000327214.8:p.Ser632Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1880C>T
  hgvsp: ENSP00000413307.1:p.Ser627Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-11C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1880C>T
  hgvsp: ENSP00000341115.5:p.Ser627Leu
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser632Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum

1-17318848-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318848
    reference: chr 1
allele count: 1
allele frequency: 8.793837278834993e-6
allele num: 113716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1880C>G
  hgvsp: ENSP00000413307.1:p.Ser627Trp
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1895C>G
  hgvsp: ENSP00000327214.8:p.Ser632Trp
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1880C>G
  hgvsp: ENSP00000341115.5:p.Ser627Trp
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-11C>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12290G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser632Trp
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-17318861-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318861
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318861
    reference: chr 1
allele count: 1
allele frequency: 8.696559641006019e-6
allele num: 114988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1867T>C
  hgvsp: ENSP00000413307.1:p.Phe623Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12277A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-24T>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1867T>C
  hgvsp: ENSP00000341115.5:p.Phe623Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1882T>C
  hgvsp: ENSP00000327214.8:p.Phe628Leu
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe628Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-17318863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318863
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318863
    reference: chr 1
allele count: 3
allele frequency: 2.610193676370787e-5
allele num: 114934
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1880G>A
  hgvsp: ENSP00000327214.8:p.Arg627His
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1865G>A
  hgvsp: ENSP00000341115.5:p.Arg622His
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1865G>A
  hgvsp: ENSP00000413307.1:p.Arg622His
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12275C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-26G>A
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16220
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg627His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

1-17318867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318867
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318867
    reference: chr 1
allele count: 1
allele frequency: 8.648573850172107e-6
allele num: 115626
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1876C>T
  hgvsp: ENSP00000327214.8:p.His626Tyr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12271G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1861C>T
  hgvsp: ENSP00000341115.5:p.His621Tyr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-30C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1861C>T
  hgvsp: ENSP00000413307.1:p.His621Tyr
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His626Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-17318873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318873
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318873
    reference: chr 1
allele count: 5
allele frequency: 4.304852429658711e-5
allele num: 116148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1855G>A
  hgvsp: ENSP00000413307.1:p.Val619Ile
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1870G>A
  hgvsp: ENSP00000327214.8:p.Val624Ile
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-36G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12265C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1855G>A
  hgvsp: ENSP00000341115.5:p.Val619Ile
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 194
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val624Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-17318874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318874
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318874
    reference: chr 1
allele count: 2
allele frequency: 1.719246969827216e-5
allele num: 116330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-37C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1854C>T
  hgvsp: ENST00000341676.5:c.1854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12264G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1869C>T
  hgvsp: ENST00000326735.8:c.1869C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1854C>T
  hgvsp: ENST00000452699.1:c.1854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19551
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser623Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-17318879-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318879
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318879
    reference: chr 1
allele count: 1
allele frequency: 8.545985950399098e-6
allele num: 117014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-42G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12259C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1849G>T
  hgvsp: ENSP00000413307.1:p.Val617Phe
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1849G>T
  hgvsp: ENSP00000341115.5:p.Val617Phe
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1864G>T
  hgvsp: ENSP00000327214.8:p.Val622Phe
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val622Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

1-17318887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318887
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318887
    reference: chr 1
allele count: 2
allele frequency: 1.699350847976073e-5
allele num: 117692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1841C>T
  hgvsp: ENSP00000341115.5:p.Pro614Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12251G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1856C>T
  hgvsp: ENSP00000327214.8:p.Pro619Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1841C>T
  hgvsp: ENSP00000413307.1:p.Pro614Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-50C>T
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro619Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

1-17318896-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318896
    reference: chr 1
allele count: 1
allele frequency: 8.430708010858751e-6
allele num: 118614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1832A>G
  hgvsp: ENSP00000413307.1:p.Glu611Gly
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1832A>G
  hgvsp: ENSP00000341115.5:p.Glu611Gly
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1847A>G
  hgvsp: ENSP00000327214.8:p.Glu616Gly
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-59A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12242T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9122
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
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genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
  all individuals: 136
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genotype quality: GenotypeQuality
  all individuals: 29077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu616Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

1-17318896-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318896
    reference: chr 1
allele count: 15
allele frequency: 1.264606201628813e-4
allele num: 118614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1832A>C
  hgvsp: ENSP00000413307.1:p.Glu611Ala
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12242T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-59A>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1847A>C
  hgvsp: ENSP00000327214.8:p.Glu616Ala
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1832A>C
  hgvsp: ENSP00000341115.5:p.Glu611Ala
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu616Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

1-17318904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318904
    reference: chr 1
allele count: 1
allele frequency: 8.394614015647561e-6
allele num: 119124
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1846-7C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-67C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12234G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1831-7C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1831-7C>T
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 9188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1846-7C>T
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

1-17318906-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318906
    reference: chr 1
allele count: 1
allele frequency: 8.38940250675347e-6
allele num: 119198
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12232T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1831-9A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.316-69A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1846-9A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1831-9A>G
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3416
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-17318913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318913
    reference: chr 1
allele count: 1
allele frequency: 8.401243384020834e-6
allele num: 119030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1831-16C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+68C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1846-16C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12225G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1831-16C>T
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  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: 11216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 65
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 577
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genotype quality: GenotypeQuality
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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: 8900
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-17318919-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318919
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318919
    reference: chr 1
allele count: 87
allele frequency: 7.288263382759487e-4
allele num: 119370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+62A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1846-22A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1831-22A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1831-22A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12219T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17926
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28093
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-17318924-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318924
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318924
    reference: chr 1
allele count: 1
allele frequency: 8.403078888104602e-6
allele num: 119004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1831-27A>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+57A>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1846-27A>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12214T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1831-27A>C
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

1-17318925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318925
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318925
    reference: chr 1
allele count: 111
allele frequency: 9.275817692577674e-4
allele num: 119666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1831-28C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+56C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1846-28C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12213G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1831-28C>T
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19117
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11348
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17943
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4411
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 9.75e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

1-17318931-T-TGGGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318931
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318936
    reference: chr 1
allele count: 1
allele frequency: 8.346966712296751e-6
allele num: 119804
alternate allele: TGGGGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1831-39_1831-35dupTCCCC
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1846-39_1846-35dupTCCCC
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+45_315+49dupTCCCC
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1831-39_1831-35dupTCCCC
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

1-17318932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318932
    reference: chr 1
allele count: 3
allele frequency: 2.503296006408438e-5
allele num: 119842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+49C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12206G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1831-35C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1831-35C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1846-35C>T
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9335
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4454
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-17318936-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318936
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318936
    reference: chr 1
allele count: 4
allele frequency: 3.392302864799769e-5
allele num: 117914
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12202A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+45T>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1846-39T>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1831-39T>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1831-39T>C
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18993
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27350
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-17318944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318944
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318944
    reference: chr 1
allele count: 3
allele frequency: 2.494429108324741e-5
allele num: 120268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+37G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1845+37G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1830+37G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12194C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1830+37G>A
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5131
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 221
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-17318952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318952
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318952
    reference: chr 1
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+29G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1830+29G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1845+29G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12186C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1830+29G>A
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype 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
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9330
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff

1-17318954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318954
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318954
    reference: chr 1
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+27C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1845+27C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1830+27C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1830+27C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12184G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-17318958-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318958
    reference: chr 1
allele count: 13
allele frequency: 1.078498066999618e-4
allele num: 120538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+23G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12180C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1830+23G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1845+23G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1830+23G>T
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-17318959-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318959
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318959
    reference: chr 1
allele count: 13
allele frequency: 1.078301260783013e-4
allele num: 120560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1830+22G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1845+22G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1830+22G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+22G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12179C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-17318962-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318962
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318962
    reference: chr 1
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1830+19G>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1845+19G>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+19G>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1830+19G>C
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12176C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
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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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  bin: 2.5e0
  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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-17318965-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318965
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318964
    reference: chr 1
allele count: 2
allele frequency: 1.658237293756736e-5
allele num: 120610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+15delG
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12167delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1830+15delG
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1845+15delG
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1830+15delG
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11562
  bin: 3.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: GC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-17318966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318966
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318966
    reference: chr 1
allele count: 3
allele frequency: 2.487850994311114e-5
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1830+15G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1845+15G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12172C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1830+15G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+15G>A
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28051
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

1-17318967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318967
    reference: chr 1
allele count: 4
allele frequency: 3.314495948028704e-5
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1830+14G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12171C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1845+14G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1830+14G>A
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+14G>A
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4864
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-17318973-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318973
    reference: chr 1
allele count: 5
allele frequency: 4.141335497871354e-5
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1845+8G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1830+8G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.315+8G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1830+8G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12165C>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
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genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 5203
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3683
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 28187
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genotype quality: GenotypeQuality
  all individuals: 504
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1845+8G>T
num of homozygotes: 1
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

1-17318982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318982
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318982
    reference: chr 1
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12156A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1829T>C
  hgvsp: ENSP00000413307.1:p.Met610Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1829T>C
  hgvsp: ENSP00000341115.5:p.Met610Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.314T>C
  hgvsp: ENSP00000421126.1:p.Met105Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1844T>C
  hgvsp: ENSP00000327214.8:p.Met615Thr
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met615Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-17318983-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318983
    reference: chr 1
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.313A>T
  hgvsp: ENSP00000421126.1:p.Met105Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12155T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1828A>T
  hgvsp: ENSP00000413307.1:p.Met610Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1843A>T
  hgvsp: ENSP00000327214.8:p.Met615Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1828A>T
  hgvsp: ENSP00000341115.5:p.Met610Leu
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4887
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met615Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-17318983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318983
    reference: chr 1
allele count: 4
allele frequency: 3.30988829127017e-5
allele num: 120850
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1843A>G
  hgvsp: ENSP00000327214.8:p.Met615Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12155T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1828A>G
  hgvsp: ENSP00000341115.5:p.Met610Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1828A>G
  hgvsp: ENSP00000413307.1:p.Met610Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.313A>G
  hgvsp: ENSP00000421126.1:p.Met105Val
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met615Val
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-17318992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318992
    reference: chr 1
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.304C>T
  hgvsp: ENST00000503552.1:c.304C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1834C>T
  hgvsp: ENST00000326735.8:c.1834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12146G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1819C>T
  hgvsp: ENST00000452699.1:c.1819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1819C>T
  hgvsp: ENST00000341676.5:c.1819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu612Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-17318995-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318995
    reference: chr 1
allele count: 2
allele frequency: 1.653657891255457e-5
allele num: 120944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1816C>A
  hgvsp: ENSP00000341115.5:p.Gln606Lys
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12143G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1816C>A
  hgvsp: ENSP00000413307.1:p.Gln606Lys
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.301C>A
  hgvsp: ENSP00000421126.1:p.Gln101Lys
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1831C>A
  hgvsp: ENSP00000327214.8:p.Gln611Lys
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln611Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-17318997-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17318997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17318997
    reference: chr 1
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1829C>G
  hgvsp: ENSP00000327214.8:p.Pro610Arg
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1814C>G
  hgvsp: ENSP00000413307.1:p.Pro605Arg
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12141G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1814C>G
  hgvsp: ENSP00000341115.5:p.Pro605Arg
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.299C>G
  hgvsp: ENSP00000421126.1:p.Pro100Arg
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9451
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro610Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

1-17319003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319003
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319003
    reference: chr 1
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1823G>A
  hgvsp: ENSP00000327214.8:p.Trp608Ter
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1808G>A
  hgvsp: ENSP00000413307.1:p.Trp603Ter
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12135C>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.293G>A
  hgvsp: ENSP00000421126.1:p.Trp98Ter
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1808G>A
  hgvsp: ENSP00000341115.5:p.Trp603Ter
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp608Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-17319007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319007
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319007
    reference: chr 1
allele count: 2
allele frequency: 1.652510162937502e-5
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.289C>T
  hgvsp: ENSP00000421126.1:p.Leu97Phe
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1804C>T
  hgvsp: ENSP00000341115.5:p.Leu602Phe
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1819C>T
  hgvsp: ENSP00000327214.8:p.Leu607Phe
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1804C>T
  hgvsp: ENSP00000413307.1:p.Leu602Phe
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12131G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4919
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu607Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-17319011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319011
    reference: chr 1
allele count: 67179
allele frequency: 5.539713691987993e-1
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1800C>T
  hgvsp: ENST00000452699.1:c.1800C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1800C>T
  hgvsp: ENST00000341676.5:c.1800C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1815C>T
  hgvsp: ENST00000326735.8:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12127G>A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.285C>T
  hgvsp: ENST00000503552.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 519
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 737
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 2.75e1
  variant carriers: 443
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.25e1
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.25e1
  variant carriers: 487
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 2.25e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 6.25e1
  variant carriers: 732
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 473
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.75e1
  variant carriers: 763
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 694
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 638
genotype depth: GenotypeDepth
  all individuals: 39305
  bin: 9.75e1
  variant carriers: 39277
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 398
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 767
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 599
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 6.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 7.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.25e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 6831
  bin: 6.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 5
hgvs: p.Pro605Pro
num of homozygotes: 19279
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-17319023-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319023
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319023
    reference: chr 1
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1788A>G
  hgvsp: ENST00000452699.1:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12115T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.273A>G
  hgvsp: ENST00000503552.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1803A>G
  hgvsp: ENST00000326735.8:c.1803A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1788A>G
  hgvsp: ENST00000341676.5:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala601Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

1-17319031-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319031
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319031
    reference: chr 1
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1780G>C
  hgvsp: ENSP00000413307.1:p.Val594Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12107C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1795G>C
  hgvsp: ENSP00000327214.8:p.Val599Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.265G>C
  hgvsp: ENSP00000421126.1:p.Val89Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1780G>C
  hgvsp: ENSP00000341115.5:p.Val594Leu
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  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: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val599Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-17319044-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319044
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319044
    reference: chr 1
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1767A>T
  hgvsp: ENST00000341676.5:c.1767A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12094T>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.252A>T
  hgvsp: ENST00000503552.1:c.252A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1767A>T
  hgvsp: ENST00000452699.1:c.1767A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1782A>T
  hgvsp: ENST00000326735.8:c.1782A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala594Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

1-17319045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319045
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319045
    reference: chr 1
allele count: 4
allele frequency: 3.298153034300791e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1766C>T
  hgvsp: ENSP00000341115.5:p.Ala589Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1781C>T
  hgvsp: ENSP00000327214.8:p.Ala594Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12093G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1766C>T
  hgvsp: ENSP00000413307.1:p.Ala589Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.251C>T
  hgvsp: ENSP00000421126.1:p.Ala84Val
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15122
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala594Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-17319046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319046
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319046
    reference: chr 1
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.250G>A
  hgvsp: ENSP00000421126.1:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1765G>A
  hgvsp: ENSP00000341115.5:p.Ala589Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12092C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1780G>A
  hgvsp: ENSP00000327214.8:p.Ala594Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1765G>A
  hgvsp: ENSP00000413307.1:p.Ala589Thr
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala594Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-17319047-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319047
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319046
    reference: chr 1
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1763delC
  hgvsp: ENSP00000341115.5:p.Ser588Ter
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1763delC
  hgvsp: ENSP00000413307.1:p.Ser588Ter
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1778delC
  hgvsp: ENSP00000327214.8:p.Ser593Ter
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.248delC
  hgvsp: ENSP00000421126.1:p.Ser83Ter
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12090delG
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser593Ter
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: TG
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS

1-17319052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319052
    reference: chr 1
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1774G>A
  hgvsp: ENSP00000327214.8:p.Asp592Asn
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.244G>A
  hgvsp: ENSP00000421126.1:p.Asp82Asn
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1759G>A
  hgvsp: ENSP00000413307.1:p.Asp587Asn
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1759G>A
  hgvsp: ENSP00000341115.5:p.Asp587Asn
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12086C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13337
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp592Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-17319054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319054
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319054
    reference: chr 1
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1772C>T
  hgvsp: ENSP00000327214.8:p.Ala591Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1757C>T
  hgvsp: ENSP00000413307.1:p.Ala586Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12084G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.242C>T
  hgvsp: ENSP00000421126.1:p.Ala81Val
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1757C>T
  hgvsp: ENSP00000341115.5:p.Ala586Val
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala591Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-17319055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319055
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319055
    reference: chr 1
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.241G>A
  hgvsp: ENSP00000421126.1:p.Ala81Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12083C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1756G>A
  hgvsp: ENSP00000341115.5:p.Ala586Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1771G>A
  hgvsp: ENSP00000327214.8:p.Ala591Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1756G>A
  hgvsp: ENSP00000413307.1:p.Ala586Thr
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala591Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-17319059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319059
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319059
    reference: chr 1
allele count: 29
allele frequency: 2.391870937943321e-4
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1752G>A
  hgvsp: ENST00000341676.5:c.1752G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1752G>A
  hgvsp: ENST00000452699.1:c.1752G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12079C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1767G>A
  hgvsp: ENST00000326735.8:c.1767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.237G>A
  hgvsp: ENST00000503552.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15109
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro589Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-17319060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319060
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319060
    reference: chr 1
allele count: 7
allele frequency: 5.773862549077831e-5
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.236C>T
  hgvsp: ENSP00000421126.1:p.Pro79Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12078G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1751C>T
  hgvsp: ENSP00000341115.5:p.Pro584Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1751C>T
  hgvsp: ENSP00000413307.1:p.Pro584Leu
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1766C>T
  hgvsp: ENSP00000327214.8:p.Pro589Leu
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15087
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7746
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro589Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-17319061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319061
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319061
    reference: chr 1
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.235C>T
  hgvsp: ENSP00000421126.1:p.Pro79Ser
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1765C>T
  hgvsp: ENSP00000327214.8:p.Pro589Ser
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1750C>T
  hgvsp: ENSP00000413307.1:p.Pro584Ser
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1750C>T
  hgvsp: ENSP00000341115.5:p.Pro584Ser
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12077G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  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: 7745
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro589Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

1-17319061-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319061
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319061
    reference: chr 1
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1750C>A
  hgvsp: ENSP00000413307.1:p.Pro584Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12077G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.235C>A
  hgvsp: ENSP00000421126.1:p.Pro79Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1765C>A
  hgvsp: ENSP00000327214.8:p.Pro589Thr
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1750C>A
  hgvsp: ENSP00000341115.5:p.Pro584Thr
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro589Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-17319062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319062
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319062
    reference: chr 1
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12076C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.234G>A
  hgvsp: ENST00000503552.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1764G>A
  hgvsp: ENST00000326735.8:c.1764G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1749G>A
  hgvsp: ENST00000341676.5:c.1749G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1749G>A
  hgvsp: ENST00000452699.1:c.1749G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  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: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15081
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu588Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

1-17319071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319071
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319071
    reference: chr 1
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.225G>A
  hgvsp: ENST00000503552.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1740G>A
  hgvsp: ENST00000341676.5:c.1740G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1755G>A
  hgvsp: ENST00000326735.8:c.1755G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1740G>A
  hgvsp: ENST00000452699.1:c.1740G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12067C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3571
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu585Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-17319075-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319075
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319075
    reference: chr 1
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.221T>C
  hgvsp: ENSP00000421126.1:p.Val74Ala
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1736T>C
  hgvsp: ENSP00000413307.1:p.Val579Ala
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1751T>C
  hgvsp: ENSP00000327214.8:p.Val584Ala
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1736T>C
  hgvsp: ENSP00000341115.5:p.Val579Ala
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12063A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7701
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val584Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-17319076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319076
    reference: chr 1
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12062C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.220G>A
  hgvsp: ENSP00000421126.1:p.Val74Ile
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1750G>A
  hgvsp: ENSP00000327214.8:p.Val584Ile
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1735G>A
  hgvsp: ENSP00000341115.5:p.Val579Ile
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1735G>A
  hgvsp: ENSP00000413307.1:p.Val579Ile
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val584Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-17319078-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319078
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319078
    reference: chr 1
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1735-2A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1735-2A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.220-2A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1750-2A>G
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12060T>C
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1750-2A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-17319078-TGGCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319078
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319074
    reference: chr 1
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1750-6_1750-3delTGCC
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12049_188-12046delCAGG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1735-6_1735-3delTGCC
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1735-6_1735-3delTGCC
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.220-6_220-3delTGCC
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1750-6_1750-3delTGCC
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: TGGCA
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

1-17319079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319079
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319079
    reference: chr 1
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1750-3C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1735-3C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.220-3C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12059G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1735-3C>T
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15063
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1750-3C>T
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

1-17319080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319080
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319080
    reference: chr 1
allele count: 5
allele frequency: 4.130524576621231e-5
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12058G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1750-4C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1735-4C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1735-4C>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.220-4C>T
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15061
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1750-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/1-17319089-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17319089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 17319089
    reference: chr 1
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000341115
  ensembl transcript: ENST00000341676
  gene symbol: ATP13A2
  hgvsc: ENST00000341676.5:c.1735-13G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226526
  ensembl transcript: ENST00000446261
  gene symbol: RP1-37C10.3
  hgvsc: ENST00000446261.1:n.188-12049C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000421126
  ensembl transcript: ENST00000503552
  gene symbol: ATP13A2
  hgvsc: ENST00000503552.1:c.220-13G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000327214
  ensembl transcript: ENST00000326735
  gene symbol: ATP13A2
  hgvsc: ENST00000326735.8:c.1750-13G>T
  variant of: http://identifiers.org/hgnc/30213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159363
  ensembl protein: ENSP00000413307
  ensembl transcript: ENST00000452699
  gene symbol: ATP13A2
  hgvsc: ENST00000452699.1:c.1735-13G>T
  variant of: http://identifiers.org/hgnc/30213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15050
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 544
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.153088850603002e-5
allele num: 16252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637947978772194e-5
allele num: 61052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11016
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 5.893e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 1.485167e6

QD
type: SiteQuality
SIO_000300: 1.114e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.632e-1

GenotypeQuality
all individuals: 1901
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6599
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60880
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.161429451632779e-5
allele num: 16230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -7.97e-1

FS
type: SiteQuality
SIO_000300: 6.648e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.029e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.037e-1

DP
type: SiteQuality
SIO_000300: 1.477687e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-1

GenotypeQuality
all individuals: 1619
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.213886865744113e-4
allele num: 8238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.288824574097218e-5
allele num: 60812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

DP
type: SiteQuality
SIO_000300: 1.474171e6

QD
type: SiteQuality
SIO_000300: 1.198e1

FS
type: SiteQuality
SIO_000300: 1.743e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeQuality
all individuals: 1619
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6383
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.119095385737735e-5
allele num: 10966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.973294744458331e-4
allele num: 60812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

FS
type: SiteQuality
SIO_000300: 1.743e0

DP
type: SiteQuality
SIO_000300: 1.474171e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 2569
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 6379
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variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643601459518096e-5
allele num: 60842
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 1.657e0

DP
type: SiteQuality
SIO_000300: 1.466874e6

VQSLOD
type: SiteQuality
SIO_000300: -1.838e0

QD
type: SiteQuality
SIO_000300: 6.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.17e-1

GenotypeQuality
all individuals: 1194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 32

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 1139
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variant carriers: 1

GenotypeQuality
all individuals: 6308
bin: 6.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.375337533753375e-4
allele num: 8888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.841959845275373e-4
allele num: 10858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.233806292412091e-4
allele num: 16210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.602235371466141e-4
allele num: 60840
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.467485e6

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 5.18e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1643
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.315659679408138e-4
allele num: 16220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 1.469626e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 2.446e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3182
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variant carriers: 4

GenotypeQuality
all individuals: 1142
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.867364322219518e-4
allele num: 8218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 9.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.298e0

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 1.474746e6

MQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6670
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GenotypeQuality
all individuals: 1157
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.159911297277319e-5
allele num: 16234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
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: 61212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9118
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.98e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 7.45e-1

DP
type: SiteQuality
SIO_000300: 1.499065e6

VQSLOD
type: SiteQuality
SIO_000300: -3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

GenotypeQuality
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1978
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GenotypeQuality
all individuals: 850
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624114857402715e-5
allele num: 61572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.514068e6

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.474e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

QD
type: SiteQuality
SIO_000300: 1.334e1

GenotypeQuality
all individuals: 3238
bin: 9.75e1
variant carriers: 15

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3669
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GenotypeQuality
all individuals: 1264
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.368613138686131e-3
allele num: 10960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.682e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.52255e6

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.41e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1045
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61738
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.821493624772313e-4
allele num: 10980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.054e1

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.322e0

DP
type: SiteQuality
SIO_000300: 1.531214e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61854201735077e-5
allele num: 61784
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.85319097306479e-4
allele num: 8242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.228652168571078e-4
allele num: 16278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.193e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.536862e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 2.503e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1830
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24119
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.232270993600103e-5
allele num: 61876
num of homozygotes: 0

African
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: 16286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10992
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.54403e6

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.071122536418166e-4
allele num: 9336
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61876
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.332e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 5.645e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.54403e6

GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 260
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7976
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597342022873938e-5
allele num: 62604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 5.45e0

DP
type: SiteQuality
SIO_000300: 1.581676e6

VQSLOD
type: SiteQuality
SIO_000300: -1.465e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
SIO_000300: 2.43e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

GenotypeQuality
all individuals: 1000
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4144
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598721023181455e-5
allele num: 62550
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.119951040391677e-5
allele num: 16340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.046682018002931e-4
allele num: 9554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.51e-1

DP
type: SiteQuality
SIO_000300: 1.587862e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.078e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

FS
type: SiteQuality
SIO_000300: 9.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

GenotypeQuality
all individuals: 484
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26606
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588057805304113e-5
allele num: 62970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.60368e6

FS
type: SiteQuality
SIO_000300: 2.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
type: SiteQuality
SIO_000300: 1.086e1

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

GenotypeQuality
all individuals: 390
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 848
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variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.580078371887246e-5
allele num: 63288
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.15473441108545e-3
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.82882223847842e-4
allele num: 16404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.039e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 1.619636e6

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4042
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variant carriers: 0

GenotypeQuality
all individuals: 27757
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.1936022917164e-4
allele num: 8378
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63422
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.333e1

DP
type: SiteQuality
SIO_000300: 1.626834e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 4128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 180
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GenotypeQuality
all individuals: 3145
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567201604814443e-5
allele num: 63808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

DP
type: SiteQuality
SIO_000300: 1.640355e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.012e0

FS
type: SiteQuality
SIO_000300: 1.4674e1

QD
type: SiteQuality
SIO_000300: 1.146e1

GenotypeQuality
all individuals: 4766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 201
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variant carriers: 0

GenotypeQuality
all individuals: 4207
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.114876650884625e-5
allele num: 64208
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e0

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 3.156e1

DP
type: SiteQuality
SIO_000300: 1.662139e6

GenotypeQuality
all individuals: 3541
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1587
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

FS
type: SiteQuality
SIO_000300: 4.749e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

DP
type: SiteQuality
SIO_000300: 1.677029e6

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.856136943061794e-4
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.079547207057154e-4
allele num: 64842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

DP
type: SiteQuality
SIO_000300: 1.677029e6

FS
type: SiteQuality
SIO_000300: 4.749e0

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1612
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.705e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.798e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.378e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 90
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GenotypeQuality
all individuals: 1613
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533083951677194e-5
allele num: 65228
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.68603e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.606e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 1.2807e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 27402
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 508
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GenotypeQuality
all individuals: 3555
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535956747457992e-5
allele num: 65106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.287e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -2.541e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

DP
type: SiteQuality
SIO_000300: 1.705809e6

GenotypeQuality
all individuals: 1608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 9.75e1
variant carriers: 87

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9126
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 81
allele frequency: 1.239290085679315e-3
allele num: 65360
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.191176470588235e-4
allele num: 6528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.472e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.693688e6

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535013661621589e-5
allele num: 65146
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.696663e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: -1.379e1

MQ
type: SiteQuality
SIO_000300: 5.89e1

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

FS
type: SiteQuality
SIO_000300: 5.2714e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 1395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3523
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526298116548124e-5
allele num: 65518
num of homozygotes: 0

African
type: Population
allele count: 109
allele frequency: 1.084577114427861e-2
allele num: 10050
num of homozygotes: 1

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

DP
type: SiteQuality
SIO_000300: 1.705142e6

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

GenotypeQuality
all individuals: 4450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3535
bin: 8.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523554147114388e-5
allele num: 65636
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.71427e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 1.3399e1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.934e-1

MQ
type: SiteQuality
SIO_000300: 4.893e1

MQRankSum
type: SiteQuality
SIO_000300: -5.791e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5058
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variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 9.75e1
variant carriers: 3

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.820609297244811e-4
allele num: 16478
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: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 1.716156e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 8.653e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.326e0

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.71e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 172
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3772
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variant carriers: 0

GenotypeQuality
all individuals: 411
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GenotypeQuality
all individuals: 1610
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variant carriers: 0

GenotypeQuality
all individuals: 8981
bin: 6.75e1
variant carriers: 1

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

African
type: Population
allele count: 2
allele frequency: 2.049180327868852e-4
allele num: 9760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.10096750186058e-5
allele num: 64496
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.962e0

DP
type: SiteQuality
SIO_000300: 1.74788e6

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 3.5445e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e0

QD
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.12e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 27945
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.964250638381458e-4
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.752638e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.023e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.702e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.751e0

DP
type: SiteQuality
SIO_000300: 1.755507e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.59e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513454611496201e-5
allele num: 66074
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

DP
type: SiteQuality
SIO_000300: 1.756289e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.096e0

FS
type: SiteQuality
SIO_000300: 2.061e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4578
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GenotypeQuality
all individuals: 1752
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
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: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.507421150278293e-3
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.369e0

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 1.758495e6

FS
type: SiteQuality
SIO_000300: 4.858e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
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bin: 2.25e1
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
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GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.507421150278293e-3
allele num: 8624
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 3.585e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.444e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.837e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

DP
type: SiteQuality
SIO_000300: 1.758861e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 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: 8628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
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: 66170
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

FS
type: SiteQuality
SIO_000300: 2.447e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.759688e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.487e1

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.165e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.022335056064315e-5
allele num: 66174
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: 10244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.86e-1

FS
type: SiteQuality
SIO_000300: 1.934e0

DP
type: SiteQuality
SIO_000300: 1.760963e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.997e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 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: 8628
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.534598990295958e-5
allele num: 66158
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10244
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: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.119e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.153e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e0

VQSLOD
type: SiteQuality
SIO_000300: -2.118e-1

DP
type: SiteQuality
SIO_000300: 1.761856e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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: 2
allele frequency: 3.019414837404511e-5
allele num: 66238
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 2.242e0

QD
type: SiteQuality
SIO_000300: 1.034e1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 1.762668e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 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: 8632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 10250
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.031037827352086e-4
allele num: 16496
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

DP
type: SiteQuality
SIO_000300: 1.763994e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.756e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

FS
type: SiteQuality
SIO_000300: 6.81e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
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: 11564
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.766361e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.643e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 2.315e0

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.036e1

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.767194e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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East Asian
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allele count: 3
allele frequency: 3.472222222222222e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66408
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African
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East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.011231894968231e-5
allele num: 66418
num of homozygotes: 0

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

South Asian
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Other
type: Population
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.903e1

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

South Asian
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African
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East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
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European (Non-Finnish)
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allele count: 0
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Other
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allele num: 906
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.919e1

GenotypeQuality
all individuals: 1787
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 2.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.792e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.175e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.489e0

DP
type: SiteQuality
SIO_000300: 1.771952e6

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9473
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
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: 16510
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.105e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.249e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 8.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 1.772861e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 48060
bin: 9.75e1
variant carriers: 47289

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 80

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 17

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 42

European (Non-Finnish)
type: Population
allele count: 41255
allele frequency: 6.188683207824548e-1
allele num: 66662
num of homozygotes: 12838

East Asian
type: Population
allele count: 2476
allele frequency: 2.867068087077351e-1
allele num: 8636
num of homozygotes: 364

African
type: Population
allele count: 4590
allele frequency: 4.426229508196721e-1
allele num: 10370
num of homozygotes: 984

Latino
type: Population
allele count: 6226
allele frequency: 5.381158167675022e-1
allele num: 11570
num of homozygotes: 1679

Other
type: Population
allele count: 511
allele frequency: 5.640176600441501e-1
allele num: 906
num of homozygotes: 141

European (Finnish)
type: Population
allele count: 3592
allele frequency: 5.43254688445251e-1
allele num: 6612
num of homozygotes: 986

South Asian
type: Population
allele count: 8529
allele frequency: 5.165334302325582e-1
allele num: 16512
num of homozygotes: 2287

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.75e-2

FS
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

DP
type: SiteQuality
SIO_000300: 8.839765e6

QD
type: SiteQuality
SIO_000300: 2.012e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

GenotypeQuality
all individuals: 3163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19487
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3583
bin: 7.25e1
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: 6614
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 11574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.191188e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.188e0

FS
type: SiteQuality
SIO_000300: 1.134e0

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.281e1

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7765
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4145
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15128
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
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: 10384
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
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: 16508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 2.191209e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 2.616e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

GenotypeQuality
all individuals: 15122
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4910
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 5.039e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 2.190598e6

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501395432584101e-5
allele num: 66646
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.817e1

FS
type: SiteQuality
SIO_000300: 6.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 2.190687e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.871e0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7764
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 15119
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4138
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variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.304e0

DP
type: SiteQuality
SIO_000300: 2.190392e6

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.761e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

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

GenotypeQuality
all individuals: 190
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
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variant carriers: 0

GenotypeQuality
all individuals: 15118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 2.190204e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

QD
type: SiteQuality
SIO_000300: 1.757e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 3164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15113
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 2
allele frequency: 3.00147072065312e-5
allele num: 66634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.018e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.153e0

FS
type: SiteQuality
SIO_000300: 9.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

MQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 2.188656e6

GenotypeQuality
all individuals: 7750
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3577
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GenotypeQuality
all individuals: 3164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 15110
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

DP
type: SiteQuality
SIO_000300: 2.18867e6

MQ
type: SiteQuality
SIO_000300: 5.992e1

QD
type: SiteQuality
SIO_000300: 1.322e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 2.018e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.306e0

GenotypeQuality
all individuals: 238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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: 10376
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 2.188548e6

VQSLOD
type: SiteQuality
SIO_000300: -5.112e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

QD
type: SiteQuality
SIO_000300: 1.219e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 5.696e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.709e0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 2.160013824088474e-3
allele num: 11574
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

FS
type: SiteQuality
SIO_000300: 2.468e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 2.188004e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 4134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
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variant carriers: 0

GenotypeQuality
all individuals: 19489
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.637686431429611e-4
allele num: 16494
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: 1.501005673801447e-5
allele num: 66622
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: 8652
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

DP
type: SiteQuality
SIO_000300: 2.185044e6

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 4135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15080
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4907
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variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19469
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.184252e6

QD
type: SiteQuality
SIO_000300: 1.672e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.258e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.049e-1

FS
type: SiteQuality
SIO_000300: 5.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4907
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variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15080
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3580
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.049e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.258e0

DP
type: SiteQuality
SIO_000300: 2.184252e6

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.672e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4906
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variant carriers: 0

GenotypeQuality
all individuals: 4135
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
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

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: 66624
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: -3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.184069e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.888e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.573e0

QD
type: SiteQuality
SIO_000300: 1.944e1

VQSLOD
type: SiteQuality
SIO_000300: -2.327e0

GenotypeQuality
all individuals: 7703
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

FS
type: SiteQuality
SIO_000300: 4.131e0

DP
type: SiteQuality
SIO_000300: 2.180517e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.308e0

QD
type: SiteQuality
SIO_000300: 1.541e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19301
bin: 6.25e1
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GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 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: 10362
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: 66568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.025e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

FS
type: SiteQuality
SIO_000300: 1.5696e1

DP
type: SiteQuality
SIO_000300: 2.180376e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 50
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 15071
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
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: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.886e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.179679e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.938e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.87e0

VQSLOD
type: SiteQuality
SIO_000300: -1.513e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.697e0

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3562
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

FS
type: SiteQuality
SIO_000300: 2.429e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-1

MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 150
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19192
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.141e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.429e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.178739e6

GenotypeQuality
all individuals: 3160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18897
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variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4877
bin: 7.75e1
variant carriers: 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: 10350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 16468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

FS
type: SiteQuality
SIO_000300: 3.121e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.574e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 2.175909e6

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4874
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
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: 10350
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.036560184622859e-4
allele num: 16466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.392e0

QD
type: SiteQuality
SIO_000300: 1.325e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.379e0

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

DP
type: SiteQuality
SIO_000300: 2.175581e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 8.88e-1