1-115215896-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115215896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115215896
    reference: chr 1
allele count: 14
allele frequency: 1.154562997905293e-4
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2173-3T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2185-3T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2086-3T>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2185-3T>C
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-115215904-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115215904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115215904
    reference: chr 1
allele count: 2
allele frequency: 1.649974425396406e-5
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2086-11T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2173-11T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2185-11T>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4100
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
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genotype quality: GenotypeQuality
  all individuals: 267
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genotype quality: GenotypeQuality
  all individuals: 1062
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6206
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-115215906-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115215906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115215906
    reference: chr 1
allele count: 2
allele frequency: 1.649974425396406e-5
allele num: 121214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2173-13T>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2086-13T>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2185-13T>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-115215907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115215907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115215907
    reference: chr 1
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2185-14C>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2086-14C>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2173-14C>T
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.25e1
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2614
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-115215919-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115215919
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115215919
    reference: chr 1
allele count: 2
allele frequency: 1.650709805216243e-5
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2173-26C>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2086-26C>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2185-26C>A
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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
  all individuals: 10421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-115215922-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115215922
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115215922
    reference: chr 1
allele count: 2
allele frequency: 1.650900566258894e-5
allele num: 121146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2086-29A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2185-29A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2173-29A>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-115215925-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115215925
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115215925
    reference: chr 1
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2185-32A>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2086-32A>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2173-32A>T
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  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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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  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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  variant carriers: 0
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

1-115215938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115215938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115215938
    reference: chr 1
allele count: 2
allele frequency: 1.653986106516705e-5
allele num: 120920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2173-45G>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2185-45G>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2086-45G>A
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 191
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-115215940-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115215940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115215940
    reference: chr 1
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2086-47A>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2185-47A>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2173-47A>T
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-115215943-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115215943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115215943
    reference: chr 1
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2185-50A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2086-50A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2173-50A>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2637
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-115216209-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216209
    reference: chr 1
allele count: 2
allele frequency: 1.669923016548937e-5
allele num: 119766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2172+51T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2184+51T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2085+51T>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-115216220-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216220
    reference: chr 1
allele count: 4
allele frequency: 3.335112059765208e-5
allele num: 119936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2085+40G>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2184+40G>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2172+40G>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

1-115216224-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216224
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216224
    reference: chr 1
allele count: 2
allele frequency: 1.666000266560043e-5
allele num: 120048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2172+36T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2184+36T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2085+36T>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13633
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-115216253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216253
    reference: chr 1
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2172+7C>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2184+7C>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2085+7C>T
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8033
  bin: 6.75e1
  variant carriers: 0
hgvs: c.2184+7C>T
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-115216256-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216256
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216256
    reference: chr 1
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2085+4G>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2172+4G>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2184+4G>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
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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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2184+4G>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-115216257-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216257
    reference: chr 1
allele count: 11
allele frequency: 9.111994698475811e-5
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2184+3A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2172+3A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2085+3A>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9878
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8037
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
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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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2184+3A>G
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

1-115216259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216259
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216259
    reference: chr 1
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2085+1G>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2184+1G>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2172+1G>A
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15800
  bin: 2.25e1
  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: 768
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  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
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2184+1G>A
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-115216275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216275
    reference: chr 1
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2070T>C
  hgvsp: ENST00000353928.6:c.2070T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2169T>C
  hgvsp: ENST00000520113.2:c.2169T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2157T>C
  hgvsp: ENST00000369538.3:c.2157T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 8060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys723Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

1-115216286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216286
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216286
    reference: chr 1
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2158G>A
  hgvsp: ENSP00000430075.2:p.Val720Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2059G>A
  hgvsp: ENSP00000316520.7:p.Val687Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2146G>A
  hgvsp: ENSP00000358551.3:p.Val716Ile
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val720Ile
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/1-115216287-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216287
    reference: chr 1
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2058T>G
  hgvsp: ENSP00000316520.7:p.Ser686Arg
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2145T>G
  hgvsp: ENSP00000358551.3:p.Ser715Arg
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2157T>G
  hgvsp: ENSP00000430075.2:p.Ser719Arg
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13634
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser719Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-115216304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216304
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216304
    reference: chr 1
allele count: 2
allele frequency: 1.653138483410755e-5
allele num: 120982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2041G>A
  hgvsp: ENSP00000316520.7:p.Glu681Lys
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2140G>A
  hgvsp: ENSP00000430075.2:p.Glu714Lys
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2128G>A
  hgvsp: ENSP00000358551.3:p.Glu710Lys
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17525
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu714Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-115216305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216305
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216305
    reference: chr 1
allele count: 4
allele frequency: 3.306003702724147e-5
allele num: 120992
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2139C>T
  hgvsp: ENST00000520113.2:c.2139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2040C>T
  hgvsp: ENST00000353928.6:c.2040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2127C>T
  hgvsp: ENST00000369538.3:c.2127C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13636
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys713Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

1-115216307-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216307
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216307
    reference: chr 1
allele count: 2
allele frequency: 1.652947204866277e-5
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2125T>A
  hgvsp: ENSP00000358551.3:p.Cys709Ser
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2137T>A
  hgvsp: ENSP00000430075.2:p.Cys713Ser
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2038T>A
  hgvsp: ENSP00000316520.7:p.Cys680Ser
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13633
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 31
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24116
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys713Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-115216309-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216309
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216309
    reference: chr 1
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2123T>C
  hgvsp: ENSP00000358551.3:p.Met708Thr
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2036T>C
  hgvsp: ENSP00000316520.7:p.Met679Thr
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2135T>C
  hgvsp: ENSP00000430075.2:p.Met712Thr
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9921
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3157
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
hgvs: p.Met712Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

1-115216325-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216325
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216325
    reference: chr 1
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2119C>G
  hgvsp: ENSP00000430075.2:p.Leu707Val
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2020C>G
  hgvsp: ENSP00000316520.7:p.Leu674Val
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2107C>G
  hgvsp: ENSP00000358551.3:p.Leu703Val
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15737
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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
  all individuals: 1450
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8082
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu707Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-115216334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216334
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216334
    reference: chr 1
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.2011G>A
  hgvsp: ENSP00000316520.7:p.Val671Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2110G>A
  hgvsp: ENSP00000430075.2:p.Val704Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2098G>A
  hgvsp: ENSP00000358551.3:p.Val700Ile
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 554
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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: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 13632
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 24073
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val704Ile
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

1-115216359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216359
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216359
    reference: chr 1
allele count: 72
allele frequency: 5.956024684413415e-4
allele num: 120886
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2085G>A
  hgvsp: ENSP00000430075.2:p.Met695Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2073G>A
  hgvsp: ENSP00000358551.3:p.Met691Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1986G>A
  hgvsp: ENSP00000316520.7:p.Met662Ile
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9882
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15389
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 8.25e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7997
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met695Ile
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-115216359-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216359
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216358
    reference: chr 1
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2072delT
  hgvsp: ENSP00000358551.3:p.Met691ArgfsTer13
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1985delT
  hgvsp: ENSP00000316520.7:p.Met662ArgfsTer13
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2084delT
  hgvsp: ENSP00000430075.2:p.Met695ArgfsTer13
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13680
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met695ArgfsTer13
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: CA
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-115216362-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216362
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216361
    reference: chr 1
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2069delT
  hgvsp: ENSP00000358551.3:p.Leu690GlnfsTer14
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1982delT
  hgvsp: ENSP00000316520.7:p.Leu661GlnfsTer14
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2081delT
  hgvsp: ENSP00000430075.2:p.Leu694GlnfsTer14
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  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
  all individuals: 554
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genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 8.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13617
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu694GlnfsTer14
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: TA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

1-115216366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216366
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216366
    reference: chr 1
allele count: 3
allele frequency: 2.486448853747078e-5
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1979C>T
  hgvsp: ENSP00000316520.7:p.Pro660Leu
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2078C>T
  hgvsp: ENSP00000430075.2:p.Pro693Leu
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2066C>T
  hgvsp: ENSP00000358551.3:p.Pro689Leu
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17412
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23157
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro693Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

1-115216366-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216366
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216366
    reference: chr 1
allele count: 2
allele frequency: 1.657632569164719e-5
allele num: 120654
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1979C>A
  hgvsp: ENSP00000316520.7:p.Pro660His
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2078C>A
  hgvsp: ENSP00000430075.2:p.Pro693His
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2066C>A
  hgvsp: ENSP00000358551.3:p.Pro689His
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro693His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

1-115216380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216380
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216380
    reference: chr 1
allele count: 13
allele frequency: 1.08257553046201e-4
allele num: 120084
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-10A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-10A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-10A>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13755
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21399
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-115216382-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216382
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216382
    reference: chr 1
allele count: 14
allele frequency: 1.166375072898442e-4
allele num: 120030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-12A>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-12A>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-12A>T
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17000
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13624
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-115216388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216388
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216388
    reference: chr 1
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-18C>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-18C>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-18C>T
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13611
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-115216393-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216393
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216393
    reference: chr 1
allele count: 1124
allele frequency: 9.392809987799376e-3
allele num: 119666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-23T>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-23T>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-23T>A
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 11985
  bin: 2.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 9.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 3.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 1.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 16350
  bin: 2.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 3.25e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 9.75e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 4.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6752
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14305
  bin: 9.75e1
  variant carriers: 1105
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 7.75e1
  variant carriers: 3
num of homozygotes: 12
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-115216395-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216395
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216395
    reference: chr 1
allele count: 2
allele frequency: 1.671709657466691e-5
allele num: 119638
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-25T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-25T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-25T>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13597
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18511
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-115216405-GAATT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216401
    reference: chr 1
allele count: 1
allele frequency: 8.390810384466932e-6
allele num: 119178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-39_1975-36delAATT
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-39_2074-36delAATT
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-39_2062-36delAATT
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 13595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: GAATT
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-115216407-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216407
    reference: chr 1
allele count: 9
allele frequency: 7.550082212006309e-5
allele num: 119204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-37T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-37T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-37T>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
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  variant carriers: 1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
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1-115216416-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216416
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216416
    reference: chr 1
allele count: 1
allele frequency: 8.407883231317684e-6
allele num: 118936
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-46A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-46A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
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  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-46A>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
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site quality: VQSLOD
site quality: MQ
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1-115216419-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216419
    reference: chr 1
allele count: 1
allele frequency: 8.411277841329655e-6
allele num: 118888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-49A>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-49A>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-49A>T
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
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site quality: DP
site quality: FS
site quality: VQSLOD
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site quality: QD

1-115216419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216419
    reference: chr 1
allele count: 1
allele frequency: 8.411277841329655e-6
allele num: 118888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-49A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-49A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
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  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-49A>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
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1-115216421-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216421
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216421
    reference: chr 1
allele count: 1
allele frequency: 8.408307407718826e-6
allele num: 118930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1975-51A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2074-51A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2062-51A>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1228
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genotype quality: GenotypeQuality
  all individuals: 6315
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-115216486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216486
    reference: chr 1
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+44G>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+44G>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+44G>A
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
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site quality: FS
site quality: MQ
site quality: MQRankSum

1-115216488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216488
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216488
    reference: chr 1
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+42C>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+42C>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+42C>T
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

1-115216490-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216490
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216490
    reference: chr 1
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+40G>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+40G>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+40G>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
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1-115216493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216493
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+37C>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+37C>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+37C>T
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-115216505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216505
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216505
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+25A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+25A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+25A>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-115216511-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216511
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216511
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+19C>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+19C>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+19C>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-115216514-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216514
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+16G>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+16G>T
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+16G>T
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 1166
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 807
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genotype quality: GenotypeQuality
  all individuals: 11215
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2077
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genotype quality: GenotypeQuality
  all individuals: 2282
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-115216521-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216521
    reference: chr 1
allele count: 4
allele frequency: 3.295544423938835e-5
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+9T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+9T>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+9T>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18561
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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genotype depth: GenotypeDepth
  all individuals: 120
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
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genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-115216522-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216522
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216522
    reference: chr 1
allele count: 5
allele frequency: 4.11936265221045e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+8A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+8A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+8A>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39050
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2073+8A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

1-115216527-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216527
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216527
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+3A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+3A>G
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+3A>G
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2073+3A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

1-115216529-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216529
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216529
    reference: chr 1
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+1G>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+1G>C
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+1G>C
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 9.75e1
  variant carriers: 2
hgvs: c.2073+1G>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-115216529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216529
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216529
    reference: chr 1
allele count: 13
allele frequency: 1.070998994908636e-4
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2061+1G>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2073+1G>A
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1974+1G>A
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2073+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-115216533-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216533
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216533
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2058C>G
  hgvsp: ENST00000369538.3:c.2058C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1971C>G
  hgvsp: ENST00000353928.6:c.1971C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2070C>G
  hgvsp: ENST00000520113.2:c.2070C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr690Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-115216537-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216537
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216537
    reference: chr 1
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1967T>C
  hgvsp: ENSP00000316520.7:p.Phe656Ser
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2066T>C
  hgvsp: ENSP00000430075.2:p.Phe689Ser
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2054T>C
  hgvsp: ENSP00000358551.3:p.Phe685Ser
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe689Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-115216547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216547
    reference: chr 1
allele count: 14
allele frequency: 1.153269519086611e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1957C>T
  hgvsp: ENSP00000316520.7:p.Gln653Ter
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2044C>T
  hgvsp: ENSP00000358551.3:p.Gln682Ter
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2056C>T
  hgvsp: ENSP00000430075.2:p.Gln686Ter
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.75e1
  variant carriers: 14
hgvs: p.Gln686Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

1-115216549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216549
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2054T>C
  hgvsp: ENSP00000430075.2:p.Met685Thr
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1955T>C
  hgvsp: ENSP00000316520.7:p.Met652Thr
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2042T>C
  hgvsp: ENSP00000358551.3:p.Met681Thr
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met685Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

1-115216557-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216557
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216557
    reference: chr 1
allele count: 194
allele frequency: 1.598075719134074e-3
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2034T>C
  hgvsp: ENST00000369538.3:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1947T>C
  hgvsp: ENST00000353928.6:c.1947T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2046T>C
  hgvsp: ENST00000520113.2:c.2046T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 25161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18569
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 9.75e1
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp682Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

1-115216568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216568
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216568
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2023C>T
  hgvsp: ENST00000369538.3:c.2023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2035C>T
  hgvsp: ENST00000520113.2:c.2035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1936C>T
  hgvsp: ENST00000353928.6:c.1936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu679Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-115216569-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216569
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2022A>C
  hgvsp: ENST00000369538.3:c.2022A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1935A>C
  hgvsp: ENST00000353928.6:c.1935A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2034A>C
  hgvsp: ENST00000520113.2:c.2034A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser678Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-115216573-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216573
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216573
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2018T>A
  hgvsp: ENSP00000358551.3:p.Ile673Asn
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2030T>A
  hgvsp: ENSP00000430075.2:p.Ile677Asn
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1931T>A
  hgvsp: ENSP00000316520.7:p.Ile644Asn
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile677Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-115216580-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216580
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216580
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1924C>A
  hgvsp: ENSP00000316520.7:p.Leu642Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2023C>A
  hgvsp: ENSP00000430075.2:p.Leu675Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.2011C>A
  hgvsp: ENSP00000358551.3:p.Leu671Ile
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39223
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu675Ile
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-115216593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216593
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216593
    reference: chr 1
allele count: 192
allele frequency: 1.581965592248369e-3
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1911C>T
  hgvsp: ENST00000353928.6:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.2010C>T
  hgvsp: ENST00000520113.2:c.2010C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1998C>T
  hgvsp: ENST00000369538.3:c.1998C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25223
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 18637
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 9.75e1
  variant carriers: 191
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe670Phe
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-115216605-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216605
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216605
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1986T>G
  hgvsp: ENST00000369538.3:c.1986T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1998T>G
  hgvsp: ENST00000520113.2:c.1998T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1899T>G
  hgvsp: ENST00000353928.6:c.1899T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39211
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro666Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

1-115216609-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216609
    reference: chr 1
allele count: 3
allele frequency: 2.472513887286333e-5
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1982A>T
  hgvsp: ENSP00000358551.3:p.Asn661Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1895A>T
  hgvsp: ENSP00000316520.7:p.Asn632Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1994A>T
  hgvsp: ENSP00000430075.2:p.Asn665Ile
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 39180
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 52
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genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn665Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-115216611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216611
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216611
    reference: chr 1
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1992A>G
  hgvsp: ENST00000520113.2:c.1992A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1980A>G
  hgvsp: ENST00000369538.3:c.1980A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1893A>G
  hgvsp: ENST00000353928.6:c.1893A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys664Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-115216615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216615
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216615
    reference: chr 1
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1988C>T
  hgvsp: ENSP00000430075.2:p.Ala663Val
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1889C>T
  hgvsp: ENSP00000316520.7:p.Ala630Val
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1976C>T
  hgvsp: ENSP00000358551.3:p.Ala659Val
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala663Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-115216617-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216617
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216617
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1887T>C
  hgvsp: ENST00000353928.6:c.1887T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1986T>C
  hgvsp: ENST00000520113.2:c.1986T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1974T>C
  hgvsp: ENST00000369538.3:c.1974T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr662Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

1-115216638-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216638
    reference: chr 1
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1965C>A
  hgvsp: ENSP00000430075.2:p.Asn655Lys
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1953C>A
  hgvsp: ENSP00000358551.3:p.Asn651Lys
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1866C>A
  hgvsp: ENSP00000316520.7:p.Asn622Lys
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39235
  bin: 6.25e1
  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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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  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
  all individuals: 11245
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1148
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn655Lys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/1-115216642-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216642
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216642
    reference: chr 1
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1961G>T
  hgvsp: ENSP00000430075.2:p.Ser654Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1862G>T
  hgvsp: ENSP00000316520.7:p.Ser621Ile
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1949G>T
  hgvsp: ENSP00000358551.3:p.Ser650Ile
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser654Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

1-115216654-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216654
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216654
    reference: chr 1
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1850T>C
  hgvsp: ENSP00000316520.7:p.Met617Thr
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1937T>C
  hgvsp: ENSP00000358551.3:p.Met646Thr
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1949T>C
  hgvsp: ENSP00000430075.2:p.Met650Thr
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 392
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 183
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
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genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2034
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11216
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genotype quality: GenotypeQuality
  all individuals: 2249
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genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met650Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-115216655-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216655
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216655
    reference: chr 1
allele count: 26
allele frequency: 2.144506763444408e-4
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1948A>G
  hgvsp: ENSP00000430075.2:p.Met650Val
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1849A>G
  hgvsp: ENSP00000316520.7:p.Met617Val
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1936A>G
  hgvsp: ENSP00000358551.3:p.Met646Val
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2182
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 394
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genotype depth: GenotypeDepth
  all individuals: 83
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18594
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 493
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 39205
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genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
hgvs: p.Met650Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-115216658-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216658
    reference: chr 1
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1945G>C
  hgvsp: ENSP00000430075.2:p.Ala649Pro
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1846G>C
  hgvsp: ENSP00000316520.7:p.Ala616Pro
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1933G>C
  hgvsp: ENSP00000358551.3:p.Ala645Pro
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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genotype depth: GenotypeDepth
  all individuals: 214
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1165
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 393
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 493
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala649Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-115216658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216658
    reference: chr 1
allele count: 5
allele frequency: 4.124459695779853e-5
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1933G>A
  hgvsp: ENSP00000358551.3:p.Ala645Thr
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1945G>A
  hgvsp: ENSP00000430075.2:p.Ala649Thr
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1846G>A
  hgvsp: ENSP00000316520.7:p.Ala616Thr
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala649Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-115216659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115216659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 115216659
    reference: chr 1
allele count: 203
allele frequency: 1.67466877856424e-3
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000358551
  ensembl transcript: ENST00000369538
  gene symbol: AMPD1
  hgvsc: ENST00000369538.3:c.1932C>T
  hgvsp: ENST00000369538.3:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000430075
  ensembl transcript: ENST00000520113
  gene symbol: AMPD1
  hgvsc: ENST00000520113.2:c.1944C>T
  hgvsp: ENST00000520113.2:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116748
  ensembl protein: ENSP00000316520
  ensembl transcript: ENST00000353928
  gene symbol: AMPD1
  hgvsc: ENST00000353928.6:c.1845C>T
  hgvsp: ENST00000353928.6:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25159
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 18590
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  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: 39190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 9.75e1
  variant carriers: 201
hgvs: p.Ile648Ile
num of homozygotes: 1
population: African
reference allele: G

GenotypeQuality
all individuals: 2619
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
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: 14
allele frequency: 8.485877076009214e-4
allele num: 16498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 1.611422e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
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: 10308
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

FS
type: SiteQuality
SIO_000300: 1.622e0

VQSLOD
type: SiteQuality
SIO_000300: -4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.608853e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 1.618e1

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
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: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.441e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.39e-1

FS
type: SiteQuality
SIO_000300: 1.1346e1

DP
type: SiteQuality
SIO_000300: 1.60857e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.299e1

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.167e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

GenotypeQuality
all individuals: 6199
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.804e0

DP
type: SiteQuality
SIO_000300: 1.608524e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 6.652e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

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

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: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213150551983501e-4
allele num: 16486
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.409e0

FS
type: SiteQuality
SIO_000300: 7.265e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.076e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.603074e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213150551983501e-4
allele num: 16486
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 1.599641e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.14e0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
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: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 16486
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.284e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -1.621e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.535e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.8e1

DP
type: SiteQuality
SIO_000300: 1.597939e6

GenotypeQuality
all individuals: 1068
bin: 9.25e1
variant carriers: 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: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002822653294096e-5
allele num: 66604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
SIO_000300: 9.16e0

FS
type: SiteQuality
SIO_000300: 1.512e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.415e0

DP
type: SiteQuality
SIO_000300: 1.584104e6

GenotypeQuality
all individuals: 750
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
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: 6606
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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Latino
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allele frequency: 8.661008141347653e-5
allele num: 11546
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African
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BaseQRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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FS
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
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European (Finnish)
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allele frequency: 1.513317191283293e-4
allele num: 6608
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11540
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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QD
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VQSLOD
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BaseQRankSum
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MQ
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DP
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.034532985373551e-5
allele num: 65908
num of homozygotes: 0

East Asian
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BaseQRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65988
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African
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allele frequency: 3.916960438699569e-4
allele num: 10212
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.95579894386857e-4
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Latino
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DP
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QD
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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bin: 8.25e1
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 6.087168249330411e-5
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num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 1.512401693889897e-4
allele num: 6612
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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MQRankSum
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FS
type: SiteQuality
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DP
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
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East Asian
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South Asian
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allele frequency: 6.689369982972513e-4
allele num: 16444
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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num of homozygotes: 0

Latino
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allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.505525277769414e-5
allele num: 66422
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Other
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Latino
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East Asian
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African
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European (Finnish)
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South Asian
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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MQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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bin: 9.25e1
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East Asian
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African
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South Asian
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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DP
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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QD
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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European (Finnish)
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Latino
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Other
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Other
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Latino
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FS
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QD
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

African
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European (Finnish)
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Other
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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GenotypeQuality
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bin: 7.25e1
variant carriers: 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: 16466
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006795357507968e-5
allele num: 66516
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.034e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 2.15304e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 8079
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

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

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

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

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

African
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allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.105e0

QD
type: SiteQuality
SIO_000300: 1.309e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.103e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 4.824e0

DP
type: SiteQuality
SIO_000300: 2.153077e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 3409
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.775e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: -9.329999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

DP
type: SiteQuality
SIO_000300: 2.153128e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 5.635e0

MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.82e-1

DP
type: SiteQuality
SIO_000300: 2.152821e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
all individuals: 13680
bin: 9.75e1
variant carriers: 72

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.195704883962591e-4
allele num: 11548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 63
allele frequency: 9.475964141748391e-4
allele num: 66484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.309e0

QD
type: SiteQuality
SIO_000300: 1.238e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.150388e6

FS
type: SiteQuality
SIO_000300: 6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

GenotypeQuality
all individuals: 2080
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.238e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.309e0

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

FS
type: SiteQuality
SIO_000300: 6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.150388e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 4270
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
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: 16468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 1.525e1

DP
type: SiteQuality
SIO_000300: 2.145822e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.31e-1

FS
type: SiteQuality
SIO_000300: 3.768e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.083e1

GenotypeQuality
all individuals: 13621
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 689
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
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: 3
allele frequency: 2.602811035918792e-4
allele num: 11526
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

DP
type: SiteQuality
SIO_000300: 2.143113e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.258e0

FS
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 13621
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23157
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.96927924379677e-4
allele num: 10156
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66392
num of homozygotes: 0

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

Latino
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allele count: 0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.258e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

FS
type: SiteQuality
SIO_000300: 7.55e-1

DP
type: SiteQuality
SIO_000300: 2.143113e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 13625
bin: 9.75e1
variant carriers: 13

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.663490911290567e-4
allele num: 66126
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1

DP
type: SiteQuality
SIO_000300: 2.125634e6

GenotypeQuality
all individuals: 1442
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

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

African
type: Population
allele count: 13
allele frequency: 1.30286630587292e-3
allele num: 9978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.385e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 2.121254e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3112
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.100044e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.615e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 7
allele frequency: 1.059963658388855e-3
allele num: 6604
num of homozygotes: 0

African
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allele count: 21
allele frequency: 2.113526570048309e-3
allele num: 9936
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South Asian
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allele count: 338
allele frequency: 2.054461463651836e-2
allele num: 16452
num of homozygotes: 6

European (Non-Finnish)
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allele count: 680
allele frequency: 1.032023068750948e-2
allele num: 65890
num of homozygotes: 5

East Asian
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allele count: 0
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num of homozygotes: 0

Other
type: Population
allele count: 16
allele frequency: 1.785714285714286e-2
allele num: 896
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Latino
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allele count: 62
allele frequency: 5.402579295921924e-3
allele num: 11476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.03e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.851e0

DP
type: SiteQuality
SIO_000300: 2.114596e6

QD
type: SiteQuality
SIO_000300: 1.328e1

GenotypeQuality
all individuals: 6855
bin: 6.75e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.035361966914554e-5
allele num: 65890
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.092673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 2.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.73e1

GenotypeQuality
all individuals: 1442
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
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: 6594
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.285e0

FS
type: SiteQuality
SIO_000300: 2.601e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.66e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

DP
type: SiteQuality
SIO_000300: 2.067314e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.47112462006079e-4
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65640
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.061958e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52699731248473e-5
allele num: 65488
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.66e-1

DP
type: SiteQuality
SIO_000300: 2.055689e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.056e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

QD
type: SiteQuality
SIO_000300: 1.864e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.528444349341241e-5
allele num: 65426
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

DP
type: SiteQuality
SIO_000300: 2.056474e6

FS
type: SiteQuality
SIO_000300: 3.273e0

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.39e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.208021261174197e-4
allele num: 8278
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65426
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.39e1

MQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 3.273e0

DP
type: SiteQuality
SIO_000300: 2.056474e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
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: 6594
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.627000000000001e0

QD
type: SiteQuality
SIO_000300: 1.545e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.338e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.151e0

VQSLOD
type: SiteQuality
SIO_000300: -1.626e0

DP
type: SiteQuality
SIO_000300: 2.058316e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.61e0

QD
type: SiteQuality
SIO_000300: 1.26e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.899554e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -1.481e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.229e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.899637e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -1.296e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.900211e6

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

East Asian
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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: 11570
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.901682e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele num: 11572
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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FS
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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South Asian
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East Asian
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African
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Latino
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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FS
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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QD
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GenotypeQuality
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Latino
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East Asian
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European (Non-Finnish)
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African
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South Asian
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MQ
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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East Asian
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South Asian
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ReadPosRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Latino
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QD
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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QD
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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South Asian
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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MQ
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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FS
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ClippingRankSum
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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African
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South Asian
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QD
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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GenotypeQuality
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African
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MQRankSum
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SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.838e0

FS
type: SiteQuality
SIO_000300: 9.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.36e-2

DP
type: SiteQuality
SIO_000300: 1.897291e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.519e0

VQSLOD
type: SiteQuality
SIO_000300: -9.181e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

GenotypeQuality
all individuals: 791
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991727610598249e-5
allele num: 66728
num of homozygotes: 0

African
type: Population
allele count: 159
allele frequency: 1.530906990179087e-2
allele num: 10386
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
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

Latino
type: Population
allele count: 26
allele frequency: 2.247191011235955e-3
allele num: 11570
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

QD
type: SiteQuality
SIO_000300: 1.254e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.902658e6

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.814e0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

FS
type: SiteQuality
SIO_000300: 4.517e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.793e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 9.42e0

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.197e0

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.898846e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.362e0

DP
type: SiteQuality
SIO_000300: 1.898856e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.275e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 2.7067e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

GenotypeQuality
all individuals: 39168
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.491e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

FS
type: SiteQuality
SIO_000300: 3.134e0

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

DP
type: SiteQuality
SIO_000300: 1.898429e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2264
bin: 7.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

DP
type: SiteQuality
SIO_000300: 1.898095e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.019e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.999e0

QD
type: SiteQuality
SIO_000300: 1.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

GenotypeQuality
all individuals: 2266
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.723e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.897907e6

QD
type: SiteQuality
SIO_000300: 1.635e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.823e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.647e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.053e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

QD
type: SiteQuality
SIO_000300: 1.394e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.257e0

DP
type: SiteQuality
SIO_000300: 1.897189e6

GenotypeQuality
all individuals: 3313
bin: 9.75e1
variant carriers: 1

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: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.897024e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.09e-1

QD
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -3.664e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.626e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 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: 11562
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

South Asian
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allele num: 16506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.895988e6

MQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.458e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

QD
type: SiteQuality
SIO_000300: 4.58e0

GenotypeQuality
all individuals: 3318
bin: 9.75e1
variant carriers: 26

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

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

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

South Asian
type: Population
allele count: 26
allele frequency: 1.575184781291651e-3
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.297e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

DP
type: SiteQuality
SIO_000300: 1.896455e6

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
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
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num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.894787e6

GenotypeQuality
all individuals: 2246
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.946282600233554e-4
allele num: 10276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

DP
type: SiteQuality
SIO_000300: 1.894787e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

GenotypeQuality
all individuals: 789
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 160
allele frequency: 1.557935735150925e-2
allele num: 10270
num of homozygotes: 1