12-125621238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621238
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621238
    reference: chr 12
allele count: 3
allele frequency: 2.473859550747106e-5
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1840T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.434T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.104T>C
  hgvsp: ENSP00000439151.1:p.Leu35Pro
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1840T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1840T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.374T>C
  hgvsp: ENSP00000441331.1:p.Leu125Pro
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.503T>C
  hgvsp: ENSP00000324929.8:p.Leu168Pro
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1709T>C
  hgvsp: ENSP00000324842.6:p.Leu570Pro
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu570Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-125621248-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621248
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621248
    reference: chr 12
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.444C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1850C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.114C>G
  hgvsp: ENST00000539251.1:c.114C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1850C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.513C>G
  hgvsp: ENST00000316543.10:c.513C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1719C>G
  hgvsp: ENST00000316519.6:c.1719C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.384C>G
  hgvsp: ENST00000536118.1:c.384C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1850C>G
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro573Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-125621249-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621249
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621249
    reference: chr 12
allele count: 13
allele frequency: 1.071793687959635e-4
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.514C>G
  hgvsp: ENSP00000324929.8:p.Gln172Glu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.445C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1851C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1851C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1720C>G
  hgvsp: ENSP00000324842.6:p.Gln574Glu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.385C>G
  hgvsp: ENSP00000441331.1:p.Gln129Glu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.115C>G
  hgvsp: ENSP00000439151.1:p.Gln39Glu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1851C>G
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln574Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-125621251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621251
    reference: chr 12
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.387G>A
  hgvsp: ENST00000536118.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1853G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.117G>A
  hgvsp: ENST00000539251.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.516G>A
  hgvsp: ENST00000316543.10:c.516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1722G>A
  hgvsp: ENST00000316519.6:c.1722G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1853G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1853G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.447G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln574Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-125621260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621260
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621260
    reference: chr 12
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1731G>A
  hgvsp: ENST00000316519.6:c.1731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1862G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.525G>A
  hgvsp: ENST00000316543.10:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.456G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1862G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.126G>A
  hgvsp: ENST00000539251.1:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.396G>A
  hgvsp: ENST00000536118.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1862G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys577Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-125621269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621269
    reference: chr 12
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1871G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1871G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1740G>A
  hgvsp: ENST00000316519.6:c.1740G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.534G>A
  hgvsp: ENST00000316543.10:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.405G>A
  hgvsp: ENST00000536118.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.465G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.135G>A
  hgvsp: ENST00000539251.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1871G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu580Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-125621271-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621271
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621271
    reference: chr 12
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1742A>G
  hgvsp: ENSP00000324842.6:p.Glu581Gly
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.137A>G
  hgvsp: ENSP00000439151.1:p.Glu46Gly
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.536A>G
  hgvsp: ENSP00000324929.8:p.Glu179Gly
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1873A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.467A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.407A>G
  hgvsp: ENSP00000441331.1:p.Glu136Gly
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1873A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1873A>G
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu581Gly
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-125621280-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621280
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621280
    reference: chr 12
allele count: 3
allele frequency: 2.472676920033628e-5
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.476T>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1882T>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.146T>G
  hgvsp: ENSP00000439151.1:p.Ile49Ser
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1882T>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.416T>G
  hgvsp: ENSP00000441331.1:p.Ile139Ser
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1751T>G
  hgvsp: ENSP00000324842.6:p.Ile584Ser
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1882T>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.545T>G
  hgvsp: ENSP00000324929.8:p.Ile182Ser
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile584Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-125621282-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621282
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621282
    reference: chr 12
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1753C>T
  hgvsp: ENSP00000324842.6:p.Leu585Phe
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.148C>T
  hgvsp: ENSP00000439151.1:p.Leu50Phe
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.418C>T
  hgvsp: ENSP00000441331.1:p.Leu140Phe
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.547C>T
  hgvsp: ENSP00000324929.8:p.Leu183Phe
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1884C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1884C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1884C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.478C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu585Phe
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: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/12-125621284-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621284
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621284
    reference: chr 12
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1755C>A
  hgvsp: ENST00000316519.6:c.1755C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.420C>A
  hgvsp: ENST00000536118.1:c.420C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1886C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.480C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.549C>A
  hgvsp: ENST00000316543.10:c.549C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1886C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1886C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.150C>A
  hgvsp: ENST00000539251.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu585Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

12-125621284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621284
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621284
    reference: chr 12
allele count: 24
allele frequency: 1.978043714766096e-4
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1886C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.549C>T
  hgvsp: ENST00000316543.10:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000081760
  ensembl transcript: ENST00000398953
  gene symbol: AACS
  hgvsc: ENST00000398953.2:n.480C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.150C>T
  hgvsp: ENST00000539251.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1886C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1755C>T
  hgvsp: ENST00000316519.6:c.1755C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1886C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.420C>T
  hgvsp: ENST00000536118.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu585Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

12-125621300-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621300
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621300
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1902T>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1902T>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.565T>A
  hgvsp: ENSP00000324929.8:p.Ser189Thr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1902T>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.436T>A
  hgvsp: ENSP00000441331.1:p.Ser146Thr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1771T>A
  hgvsp: ENSP00000324842.6:p.Ser591Thr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.166T>A
  hgvsp: ENSP00000439151.1:p.Ser56Thr
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser591Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-125621302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621302
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621302
    reference: chr 12
allele count: 10
allele frequency: 8.24347940778844e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1773C>T
  hgvsp: ENST00000316519.6:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1904C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.438C>T
  hgvsp: ENST00000536118.1:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.567C>T
  hgvsp: ENST00000316543.10:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1904C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.168C>T
  hgvsp: ENST00000539251.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1904C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser591Ser
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

12-125621303-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621303
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621303
    reference: chr 12
allele count: 3
allele frequency: 2.472921509471289e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.568G>A
  hgvsp: ENSP00000324929.8:p.Gly190Arg
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1905G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.439G>A
  hgvsp: ENSP00000441331.1:p.Gly147Arg
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.169G>A
  hgvsp: ENSP00000439151.1:p.Gly57Arg
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1905G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1774G>A
  hgvsp: ENSP00000324842.6:p.Gly592Arg
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1905G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8609
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly592Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-125621308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621308
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621308
    reference: chr 12
allele count: 10
allele frequency: 8.244294947896056e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1779C>T
  hgvsp: ENST00000316519.6:c.1779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1910C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1910C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.174C>T
  hgvsp: ENST00000539251.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1910C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.573C>T
  hgvsp: ENST00000316543.10:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.444C>T
  hgvsp: ENST00000536118.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His593His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

12-125621309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621309
    reference: chr 12
allele count: 4
allele frequency: 3.297826732183491e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1780G>A
  hgvsp: ENSP00000324842.6:p.Ala594Thr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1911G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1911G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.574G>A
  hgvsp: ENSP00000324929.8:p.Ala192Thr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1911G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.445G>A
  hgvsp: ENSP00000441331.1:p.Ala149Thr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.175G>A
  hgvsp: ENSP00000439151.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala594Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-125621309-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621309
    reference: chr 12
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.175G>T
  hgvsp: ENSP00000439151.1:p.Ala59Ser
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.574G>T
  hgvsp: ENSP00000324929.8:p.Ala192Ser
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1911G>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1911G>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1780G>T
  hgvsp: ENSP00000324842.6:p.Ala594Ser
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.445G>T
  hgvsp: ENSP00000441331.1:p.Ala149Ser
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1911G>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala594Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-125621319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621319
    reference: chr 12
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.584C>T
  hgvsp: ENSP00000324929.8:p.Pro195Leu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1921C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.455C>T
  hgvsp: ENSP00000441331.1:p.Pro152Leu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.185C>T
  hgvsp: ENSP00000439151.1:p.Pro62Leu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1790C>T
  hgvsp: ENSP00000324842.6:p.Pro597Leu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1921C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1921C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro597Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-125621339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621339
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621339
    reference: chr 12
allele count: 2
allele frequency: 1.650192247396822e-5
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.475C>T
  hgvsp: ENSP00000441331.1:p.Arg159Cys
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.604C>T
  hgvsp: ENSP00000324929.8:p.Arg202Cys
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.205C>T
  hgvsp: ENSP00000439151.1:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1941C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1941C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1941C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1810C>T
  hgvsp: ENSP00000324842.6:p.Arg604Cys
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg604Cys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-125621341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621341
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621341
    reference: chr 12
allele count: 2
allele frequency: 1.650382888830209e-5
allele num: 121184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.207T>C
  hgvsp: ENST00000539251.1:c.207T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441331
  ensembl transcript: ENST00000536118
  gene symbol: AACS
  hgvsc: ENST00000536118.1:c.477T>C
  hgvsp: ENST00000536118.1:c.477T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1812T>C
  hgvsp: ENST00000316519.6:c.1812T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1943T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1943T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.606T>C
  hgvsp: ENST00000316543.10:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1943T>C
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg604Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-125621344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621344
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621344
    reference: chr 12
allele count: 14
allele frequency: 1.155439644784841e-4
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1815C>T
  hgvsp: ENST00000316519.6:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1946C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.609C>T
  hgvsp: ENST00000316543.10:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.210C>T
  hgvsp: ENST00000539251.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1946C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1946C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 8572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp605Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-125621344-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621344
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621344
    reference: chr 12
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.609C>A
  hgvsp: ENSP00000324929.8:p.Asp203Glu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.210C>A
  hgvsp: ENSP00000439151.1:p.Asp70Glu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1946C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1946C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1815C>A
  hgvsp: ENSP00000324842.6:p.Asp605Glu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1946C>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp605Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-125621345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621345
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621345
    reference: chr 12
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.211G>A
  hgvsp: ENSP00000439151.1:p.Ala71Thr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1947G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1947G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.610G>A
  hgvsp: ENSP00000324929.8:p.Ala204Thr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1816G>A
  hgvsp: ENSP00000324842.6:p.Ala606Thr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1947G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala606Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-125621349-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621349
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621348
    reference: chr 12
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1953delC
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1822delC
  hgvsp: ENSP00000324842.6:p.Arg608AlafsTer106
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1953delC
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.616delC
  hgvsp: ENSP00000324929.8:p.Arg206AlafsTer106
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1953delC
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.217delC
  hgvsp: ENSP00000439151.1:p.Arg73AlafsTer?
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg608AlafsTer106
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TC
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-125621350-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621350
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621350
    reference: chr 12
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.615C>A
  hgvsp: ENST00000316543.10:c.615C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1952C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1821C>A
  hgvsp: ENST00000316519.6:c.1821C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1952C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.216C>A
  hgvsp: ENST00000539251.1:c.216C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1952C>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile607Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

12-125621351-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621351
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621351
    reference: chr 12
allele count: 24
allele frequency: 1.981342359448526e-4
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1953C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1822C>T
  hgvsp: ENSP00000324842.6:p.Arg608Cys
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.616C>T
  hgvsp: ENSP00000324929.8:p.Arg206Cys
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1953C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1953C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.217C>T
  hgvsp: ENSP00000439151.1:p.Arg73Cys
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33839
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg608Cys
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-125621352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621352
    reference: chr 12
allele count: 2
allele frequency: 1.651200422707308e-5
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1954G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1823G>A
  hgvsp: ENSP00000324842.6:p.Arg608His
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1954G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.617G>A
  hgvsp: ENSP00000324929.8:p.Arg206His
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.218G>A
  hgvsp: ENSP00000439151.1:p.Arg73His
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1954G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg608His
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-125621352-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621352
    reference: chr 12
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1823G>T
  hgvsp: ENSP00000324842.6:p.Arg608Leu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.218G>T
  hgvsp: ENSP00000439151.1:p.Arg73Leu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1954G>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.617G>T
  hgvsp: ENSP00000324929.8:p.Arg206Leu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1954G>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1954G>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  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: 257
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg608Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

12-125621358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621358
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621358
    reference: chr 12
allele count: 8
allele frequency: 6.610040651750008e-5
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1960G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.623G>A
  hgvsp: ENSP00000324929.8:p.Gly208Asp
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.224G>A
  hgvsp: ENSP00000439151.1:p.Gly75Asp
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1960G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1829G>A
  hgvsp: ENSP00000324842.6:p.Gly610Asp
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1960G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly610Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-125621362-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621362
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621362
    reference: chr 12
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1833G>T
  hgvsp: ENSP00000324842.6:p.Leu611Phe
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1964G>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1964G>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1964G>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.627G>T
  hgvsp: ENSP00000324929.8:p.Leu209Phe
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.228G>T
  hgvsp: ENSP00000439151.1:p.Leu76Phe
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu611Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-125621364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621364
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621364
    reference: chr 12
allele count: 17
allele frequency: 1.405237402459992e-4
allele num: 120976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1966C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.230C>T
  hgvsp: ENSP00000439151.1:p.Ser77Phe
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1966C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1835C>T
  hgvsp: ENSP00000324842.6:p.Ser612Phe
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.629C>T
  hgvsp: ENSP00000324929.8:p.Ser210Phe
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1966C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser612Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-125621365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621365
    reference: chr 12
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1967T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1836T>C
  hgvsp: ENST00000316519.6:c.1836T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1967T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1967T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.630T>C
  hgvsp: ENST00000316543.10:c.630T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.231T>C
  hgvsp: ENST00000539251.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser612Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-125621367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621367
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621367
    reference: chr 12
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.233C>T
  hgvsp: ENSP00000439151.1:p.Ala78Val
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1969C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1969C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1838C>T
  hgvsp: ENSP00000324842.6:p.Ala613Val
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1969C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.632C>T
  hgvsp: ENSP00000324929.8:p.Ala211Val
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala613Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

12-125621368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621368
    reference: chr 12
allele count: 3
allele frequency: 2.480691947673938e-5
allele num: 120934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.633G>A
  hgvsp: ENST00000316543.10:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1970G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.234G>A
  hgvsp: ENST00000539251.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1970G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1839G>A
  hgvsp: ENST00000316519.6:c.1839G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1970G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala613Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

12-125621369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621369
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621369
    reference: chr 12
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1971C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.235C>T
  hgvsp: ENSP00000439151.1:p.Arg79Ter
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1971C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1840C>T
  hgvsp: ENSP00000324842.6:p.Arg614Ter
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1971C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.634C>T
  hgvsp: ENSP00000324929.8:p.Arg212Ter
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33653
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg614Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

12-125621370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621370
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621370
    reference: chr 12
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.236G>A
  hgvsp: ENSP00000439151.1:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1972G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1841G>A
  hgvsp: ENSP00000324842.6:p.Arg614Gln
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1972G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.635G>A
  hgvsp: ENSP00000324929.8:p.Arg212Gln
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1972G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg614Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

12-125621372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621372
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621372
    reference: chr 12
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.637C>T
  hgvsp: ENSP00000324929.8:p.His213Tyr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.238C>T
  hgvsp: ENSP00000439151.1:p.His80Tyr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1974C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1974C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1843C>T
  hgvsp: ENSP00000324842.6:p.His615Tyr
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1974C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His615Tyr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

12-125621374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621374
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621374
    reference: chr 12
allele count: 36
allele frequency: 2.978258711406731e-4
allele num: 120876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.639C>T
  hgvsp: ENST00000316543.10:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1976C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1845C>T
  hgvsp: ENST00000316519.6:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1976C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.240C>T
  hgvsp: ENST00000539251.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1976C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His615His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-125621375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621375
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621375
    reference: chr 12
allele count: 3
allele frequency: 2.482128673550437e-5
allele num: 120864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.241G>A
  hgvsp: ENSP00000439151.1:p.Val81Met
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.640G>A
  hgvsp: ENSP00000324929.8:p.Val214Met
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1977G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1846G>A
  hgvsp: ENSP00000324842.6:p.Val616Met
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1977G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1977G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val616Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-125621380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621380
    reference: chr 12
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.246C>T
  hgvsp: ENST00000539251.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1982C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.645C>T
  hgvsp: ENST00000316543.10:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1982C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1851C>T
  hgvsp: ENST00000316519.6:c.1851C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1982C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro617Pro
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-125621386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621386
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621386
    reference: chr 12
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1988C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1988C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1988C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1857C>T
  hgvsp: ENST00000316519.6:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.651C>T
  hgvsp: ENST00000316543.10:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.252C>T
  hgvsp: ENST00000539251.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu619Leu
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: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

12-125621397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621397
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621397
    reference: chr 12
allele count: 8
allele frequency: 6.640767672742968e-5
allele num: 120468
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1868C>T
  hgvsp: ENSP00000324842.6:p.Thr623Ile
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.263C>T
  hgvsp: ENSP00000439151.1:p.Thr88Ile
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+1999C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+1999C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+1999C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.662C>T
  hgvsp: ENSP00000324929.8:p.Thr221Ile
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16147
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr623Ile
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-125621399-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621399
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621399
    reference: chr 12
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2001A>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1870A>C
  hgvsp: ENSP00000324842.6:p.Lys624Gln
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2001A>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2001A>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.265A>C
  hgvsp: ENSP00000439151.1:p.Lys89Gln
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.664A>C
  hgvsp: ENSP00000324929.8:p.Lys222Gln
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys624Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-125621399-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621399
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621399
    reference: chr 12
allele count: 2
allele frequency: 1.66021948101539e-5
allele num: 120466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2001A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2001A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1870A>G
  hgvsp: ENSP00000324842.6:p.Lys624Glu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.664A>G
  hgvsp: ENSP00000324929.8:p.Lys222Glu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2001A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.265A>G
  hgvsp: ENSP00000439151.1:p.Lys89Glu
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8277
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys624Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-125621408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621408
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621408
    reference: chr 12
allele count: 2
allele frequency: 1.666500016665e-5
allele num: 120012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2010C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1879C>T
  hgvsp: ENSP00000324842.6:p.Pro627Ser
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2010C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.673C>T
  hgvsp: ENSP00000324929.8:p.Pro225Ser
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.274C>T
  hgvsp: ENSP00000439151.1:p.Pro92Ser
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2010C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8019
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro627Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

12-125621409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621409
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621409
    reference: chr 12
allele count: 2
allele frequency: 1.667333600106709e-5
allele num: 119952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.275C>T
  hgvsp: ENSP00000439151.1:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2011C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2011C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.674C>T
  hgvsp: ENSP00000324929.8:p.Pro225Leu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1880C>T
  hgvsp: ENSP00000324842.6:p.Pro627Leu
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2011C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro627Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-125621411-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621411
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621411
    reference: chr 12
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2013G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2013G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2013G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+1G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+1G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+1G>C
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1881+1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-125621415-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621415
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621415
    reference: chr 12
allele count: 2
allele frequency: 1.674312694638851e-5
allele num: 119452
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2017G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+5G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2017G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+5G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2017G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+5G>C
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1881+5G>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-125621417-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621417
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621417
    reference: chr 12
allele count: 1
allele frequency: 8.422754914677492e-6
allele num: 118726
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+7C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2019C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2019C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+7C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+7C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2019C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30027
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1881+7C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

12-125621418-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621418
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621418
    reference: chr 12
allele count: 541
allele frequency: 4.556480140147559e-3
allele num: 118732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2020C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2020C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+8C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2020C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+8C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+8C>G
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 2.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 29374
  bin: 2.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7283
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 1
hgvs: c.1881+8C>G
num of homozygotes: 6
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-125621419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621419
    reference: chr 12
allele count: 42365
allele frequency: 3.573838808186128e-1
allele num: 118542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+9A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+9A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2021A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2021A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2021A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+9A>G
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9984
  bin: 2.75e1
  variant carriers: 3071
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 1.75e1
  variant carriers: 1410
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.75e1
  variant carriers: 945
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.5e0
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 581
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 14369
  bin: 2.25e1
  variant carriers: 2093
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 1530
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.25e1
  variant carriers: 741
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.75e1
  variant carriers: 4216
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 3.75e1
  variant carriers: 4614
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 3.25e1
  variant carriers: 4068
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 5.75e1
  variant carriers: 2320
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.75e1
  variant carriers: 366
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 5.25e1
  variant carriers: 3268
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 4.25e1
  variant carriers: 4893
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 176
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 305
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.75e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 15317
  bin: 6.25e1
  variant carriers: 211
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.25e1
  variant carriers: 195
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.75e1
  variant carriers: 128
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 8.25e1
  variant carriers: 312
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 93
num of homozygotes: 7769
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-125621425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621425
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621425
    reference: chr 12
allele count: 2
allele frequency: 1.694943982101392e-5
allele num: 117998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+15C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2027C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2027C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+15C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2027C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+15C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16375
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

12-125621426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621426
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621426
    reference: chr 12
allele count: 4
allele frequency: 3.392475489364589e-5
allele num: 117908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+16G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+16G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2028G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+16G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2028G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2028G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7891
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-125621430-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621430
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621430
    reference: chr 12
allele count: 1
allele frequency: 8.500076500688507e-6
allele num: 117646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2032G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+20G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+20G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2032G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+20G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2032G>C
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21050
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-125621431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621431
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621431
    reference: chr 12
allele count: 8
allele frequency: 6.818143078732507e-5
allele num: 117334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2033C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+21C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2033C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2033C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+21C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+21C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9775
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20371
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-125621437-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621437
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621437
    reference: chr 12
allele count: 98
allele frequency: 8.37234733280935e-4
allele num: 117052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2039G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+27G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2039G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2039G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+27G>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+27G>C
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14594
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 19186
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 9.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7174
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-125621440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621440
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621440
    reference: chr 12
allele count: 1
allele frequency: 8.588261564094195e-6
allele num: 116438
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+30C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+30C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+30C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2042C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2042C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2042C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17180
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

12-125621441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621441
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621441
    reference: chr 12
allele count: 2
allele frequency: 1.718980988070272e-5
allele num: 116348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2043G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2043G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2043G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+31G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+31G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+31G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-125621442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621442
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621442
    reference: chr 12
allele count: 1
allele frequency: 8.592541673827119e-6
allele num: 116380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2044C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2044C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2044C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+32C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+32C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+32C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17131
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-125621445-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621445
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621445
    reference: chr 12
allele count: 1
allele frequency: 8.61489687968435e-6
allele num: 116078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2047C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2047C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+35C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2047C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+35C>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+35C>G
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-125621447-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621447
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621447
    reference: chr 12
allele count: 3
allele frequency: 2.589734293261511e-5
allele num: 115842
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+37A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2049A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+37A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2049A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+37A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2049A>G
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7257
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4776
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19803
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-125621449-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621449
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621449
    reference: chr 12
allele count: 11
allele frequency: 9.534210480697558e-5
allele num: 115374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+39C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2051C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+39C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2051C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2051C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+39C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12171
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13590
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12811
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5018
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-125621450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621450
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621450
    reference: chr 12
allele count: 2
allele frequency: 1.742737142956728e-5
allele num: 114762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2052G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+40G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+40G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2052G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2052G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+40G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-125621456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621456
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621456
    reference: chr 12
allele count: 1
allele frequency: 8.759635599159075e-6
allele num: 114160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2058C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+46C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+46C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+46C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2058C>T
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2058C>T
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15549
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5079
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-125621457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621457
    reference: chr 12
allele count: 2
allele frequency: 1.752725488134048e-5
allele num: 114108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2059G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2059G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+47G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+47G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2059G>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+47G>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15737
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

12-125621458-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125621458
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125621458
    reference: chr 12
allele count: 1
allele frequency: 8.761631065239105e-6
allele num: 114134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.417+2060A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1881+48A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.276+48A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.177+2060A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.675+48A>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1678+2060A>G
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.25e1
  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: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

12-125626587-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125626587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125626587
    reference: chr 12
allele count: 2
allele frequency: 1.665639522294585e-5
allele num: 120074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.277-51T>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1882-51T>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.676-51T>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1679-51T>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.418-51T>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.178-51T>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16284
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-125626587-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125626587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125626587
    reference: chr 12
allele count: 2
allele frequency: 1.665639522294585e-5
allele num: 120074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1679-51T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.277-51T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.418-51T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.178-51T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1882-51T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.676-51T>C
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16284
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16079
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

12-125626587-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125626587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125626587
    reference: chr 12
allele count: 1
allele frequency: 8.328197611472925e-6
allele num: 120074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.277-51T>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.178-51T>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.676-51T>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1679-51T>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.418-51T>G
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1882-51T>G
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16284
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

12-125626588-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125626588
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125626588
    reference: chr 12
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.418-50T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.178-50T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1679-50T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.277-50T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1882-50T>C
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.676-50T>C
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13774
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

12-125626589-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125626589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125626588
    reference: chr 12
allele count: 1
allele frequency: 8.331389342486753e-6
allele num: 120028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.676-43delC
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.277-43delC
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1679-43delC
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.178-43delC
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1882-43delC
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.418-43delC
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: TC
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/12-125626590-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125626590
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 125626590
    reference: chr 12
allele count: 1
allele frequency: 8.338892595063375e-6
allele num: 119920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000442007
  ensembl transcript: ENST00000543665
  gene symbol: AACS
  hgvsc: ENST00000543665.1:c.178-48C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000261686
  ensembl transcript: ENST00000261686
  gene symbol: AACS
  hgvsc: ENST00000261686.6:c.1679-48C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324842
  ensembl transcript: ENST00000316519
  gene symbol: AACS
  hgvsc: ENST00000316519.6:c.1882-48C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000439151
  ensembl transcript: ENST00000539251
  gene symbol: AACS
  hgvsc: ENST00000539251.1:c.277-48C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000324929
  ensembl transcript: ENST00000316543
  gene symbol: AACS
  hgvsc: ENST00000316543.10:c.676-48C>A
  variant of: http://identifiers.org/hgnc/21298
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081760
  ensembl protein: ENSP00000441387
  ensembl transcript: ENST00000545511
  gene symbol: AACS
  hgvsc: ENST00000545511.1:c.418-48C>A
  variant of: http://identifiers.org/hgnc/21298
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7425
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-125626594-C-A
type: Variant
allele count: 5
allele frequency: 4.162434857894474e-5
allele num: 120122
alternate allele: A
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38872
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 9.75e1
variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500855162480871e-5
allele num: 66654
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.530165e6

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.375e1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.161e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.530959e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.022e0

FS
type: SiteQuality
SIO_000300: 2.2526e1

VQSLOD
type: SiteQuality
SIO_000300: -3.608e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.08e-1

GenotypeQuality
all individuals: 8605
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38876
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.19994000299985e-4
allele num: 66670
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

DP
type: SiteQuality
SIO_000300: 1.53159e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.716e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.783e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

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

GenotypeQuality
all individuals: 8612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.5711e1

QD
type: SiteQuality
SIO_000300: 1.114e1

MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

VQSLOD
type: SiteQuality
SIO_000300: -2.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.53131e6

GenotypeQuality
all individuals: 38896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.54e-1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.39e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.745e0

FS
type: SiteQuality
SIO_000300: 1.058e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.97e-1

DP
type: SiteQuality
SIO_000300: 1.53162e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.99e0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1936
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 957
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38922
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

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

Latino
type: Population
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: 8650
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.531919e6

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 2.52e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.3856e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.393e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.319e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.834e0

GenotypeQuality
all individuals: 3574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3123
bin: 7.25e1
variant carriers: 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: 10400
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.047e0

FS
type: SiteQuality
SIO_000300: 1.271e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.767e0

DP
type: SiteQuality
SIO_000300: 1.531942e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.341e0

QD
type: SiteQuality
SIO_000300: 1.748e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 8614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38925
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 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: 3
allele frequency: 4.498965237995261e-5
allele num: 66682
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.532202e6

FS
type: SiteQuality
SIO_000300: 2.605e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 1110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8618
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
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: 11570
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.532393e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.152e0

QD
type: SiteQuality
SIO_000300: 1.422e1

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8619
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38904
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.53363e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.73e0

QD
type: SiteQuality
SIO_000300: 1.18e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 1.146e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

GenotypeQuality
all individuals: 3574
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38904
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.502890173410405e-3
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498695378340282e-5
allele num: 66686
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.18e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.73e0

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.53363e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 1.146e0

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

GenotypeQuality
all individuals: 1939
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38897
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.767e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.532041e6

FS
type: SiteQuality
SIO_000300: 8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.403e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

DP
type: SiteQuality
SIO_000300: 1.532621e6

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

GenotypeQuality
all individuals: 2338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.74e-1

FS
type: SiteQuality
SIO_000300: 5.079e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.53228e6

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1946
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38849
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 8
allele frequency: 7.693787266782073e-4
allele num: 10398
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

DP
type: SiteQuality
SIO_000300: 1.532568e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1942
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8600
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.532063e6

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 1.142e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

DP
type: SiteQuality
SIO_000300: 1.532063e6

GenotypeQuality
all individuals: 38882
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3108
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8597
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.531542e6

MQ
type: SiteQuality
SIO_000300: 5.879e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 1.5388e1

QD
type: SiteQuality
SIO_000300: 1.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.584e0

VQSLOD
type: SiteQuality
SIO_000300: -1.502e0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.707e0

DP
type: SiteQuality
SIO_000300: 1.529902e6

QD
type: SiteQuality
SIO_000300: 1.038e1

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

DP
type: SiteQuality
SIO_000300: 1.5295e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.675e0

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.089e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.26e-1

GenotypeQuality
all individuals: 212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508566275924256e-5
allele num: 66540
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 10
allele frequency: 8.637070305752289e-4
allele num: 11578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.657e-1

DP
type: SiteQuality
SIO_000300: 1.529956e6

FS
type: SiteQuality
SIO_000300: 8.417999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 8.417999999999999e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.657e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 1.529956e6

GenotypeQuality
all individuals: 215
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.529215e6

QD
type: SiteQuality
SIO_000300: 1.12e1

FS
type: SiteQuality
SIO_000300: 7.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8567
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

FS
type: SiteQuality
SIO_000300: 6.487e0

MQ
type: SiteQuality
SIO_000300: 6.037e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 1.528709e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

GenotypeQuality
all individuals: 949
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3095
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38705
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 10390
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 1.528647e6

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.196e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.615e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
all individuals: 3554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.517440461871541e-5
allele num: 66512
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: 8624
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.090380421613763e-3
allele num: 16508
num of homozygotes: 1

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.529834e6

QD
type: SiteQuality
SIO_000300: 1.223e1

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.44e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 1

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.222e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 9.893000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.497e1

DP
type: SiteQuality
SIO_000300: 1.52859e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
all individuals: 1943
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3093
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8546
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
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: 10392
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.52859e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.22e-2

FS
type: SiteQuality
SIO_000300: 9.893000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.222e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.497e1

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8524
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.75e1
variant carriers: 8

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.032335762028061e-5
allele num: 66428
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

DP
type: SiteQuality
SIO_000300: 1.527162e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.837e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

GenotypeQuality
all individuals: 1941
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

QD
type: SiteQuality
SIO_000300: 1.644e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.526081e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.13e-1

FS
type: SiteQuality
SIO_000300: 3.043e0

MQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

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

GenotypeQuality
all individuals: 947
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

African
type: Population
allele count: 17
allele frequency: 1.638712165027954e-3
allele num: 10374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 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: 66398
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.294e1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.653e0

FS
type: SiteQuality
SIO_000300: 1.143e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

DP
type: SiteQuality
SIO_000300: 1.526362e6

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.668e0

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

DP
type: SiteQuality
SIO_000300: 1.525274e6

QD
type: SiteQuality
SIO_000300: 1.308e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.249e0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3082
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8504
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

FS
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.524763e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
all individuals: 946
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013500482160077e-5
allele num: 66368
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

DP
type: SiteQuality
SIO_000300: 1.524373e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38333
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8500
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

FS
type: SiteQuality
SIO_000300: 3.741e0

MQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

DP
type: SiteQuality
SIO_000300: 1.523892e6

GenotypeQuality
all individuals: 8492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
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: 10368
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.905e0

QD
type: SiteQuality
SIO_000300: 1.18e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.52385e6

VQSLOD
type: SiteQuality
SIO_000300: -1.735e0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1105
bin: 9.25e1
variant carriers: 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: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 1.497e0

QD
type: SiteQuality
SIO_000300: 1.003e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.46e-1

DP
type: SiteQuality
SIO_000300: 1.522952e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 9.75e1
variant carriers: 36

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50779530170984e-5
allele num: 66322
num of homozygotes: 0

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

African
type: Population
allele count: 33
allele frequency: 3.18287037037037e-3
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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: 1.176e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.224e1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

DP
type: SiteQuality
SIO_000300: 1.52449e6

GenotypeQuality
all individuals: 2314
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3539
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8477
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38249
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523658735185018e-5
allele num: 66318
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.52281e6

VQSLOD
type: SiteQuality
SIO_000300: 3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.127e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.34e-1

GenotypeQuality
all individuals: 622
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2314
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
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: 10364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.521004e6

QD
type: SiteQuality
SIO_000300: 9.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8444
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: 8598
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: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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: -2.281e0

FS
type: SiteQuality
SIO_000300: 8.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 1.518914e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.86677211339579e-4
allele num: 16438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.415e0

FS
type: SiteQuality
SIO_000300: 4.328e0

DP
type: SiteQuality
SIO_000300: 1.508612e6

QD
type: SiteQuality
SIO_000300: 1.369e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

GenotypeQuality
all individuals: 2300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3499
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
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: 898
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 1.508351e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

GenotypeQuality
all individuals: 3499
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
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: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

QD
type: SiteQuality
SIO_000300: 1.231e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

DP
type: SiteQuality
SIO_000300: 1.508351e6

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-2

GenotypeQuality
all individuals: 662
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2978
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038590094196293e-5
allele num: 65820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.38e-1

DP
type: SiteQuality
SIO_000300: 1.492088e6

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

GenotypeQuality
all individuals: 254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 668
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519895431194334e-5
allele num: 65794
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.533e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 2.875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 1.492923e6

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521236460995497e-5
allele num: 65736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.164e0

QD
type: SiteQuality
SIO_000300: 1.247e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

DP
type: SiteQuality
SIO_000300: 1.48908e6

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7829
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2947
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32377
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.961938395134393e-4
allele num: 10194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

FS
type: SiteQuality
SIO_000300: 6.064e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.068e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.484907e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.128e1

GenotypeQuality
all individuals: 1275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

FS
type: SiteQuality
SIO_000300: 1.342e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.18e0

QD
type: SiteQuality
SIO_000300: 3.042e1

DP
type: SiteQuality
SIO_000300: 1.486519e6

GenotypeQuality
all individuals: 2257
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1271
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1683
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29948
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2468
bin: 9.75e1
variant carriers: 529

GenotypeQuality
all individuals: 1358
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.986263189329086e-4
allele num: 10046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.063725490196078e-4
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 53
allele frequency: 4.623974873495027e-3
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 53
allele frequency: 3.26797385620915e-3
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 425
allele frequency: 6.533837591858069e-3
allele num: 65046
num of homozygotes: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.681818181818182e-3
allele num: 880
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 4.509e0

QD
type: SiteQuality
SIO_000300: 1.776e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

DP
type: SiteQuality
SIO_000300: 1.495179e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeQuality
all individuals: 742
bin: 5.25e1
variant carriers: 198

GenotypeQuality
all individuals: 580
bin: 2.75e1
variant carriers: 59

GenotypeQuality
all individuals: 521
bin: 9.25e1
variant carriers: 340

GenotypeQuality
all individuals: 758
bin: 3.25e1
variant carriers: 91

GenotypeQuality
all individuals: 2884
bin: 6.75e1
variant carriers: 253

GenotypeQuality
all individuals: 454
bin: 8.75e1
variant carriers: 274

GenotypeQuality
all individuals: 32370
bin: 9.75e1
variant carriers: 32002

Other
type: Population
allele count: 332
allele frequency: 3.781321184510251e-1
allele num: 878
num of homozygotes: 67

East Asian
type: Population
allele count: 4708
allele frequency: 5.555817795610102e-1
allele num: 8474
num of homozygotes: 1284

European (Non-Finnish)
type: Population
allele count: 22111
allele frequency: 3.401482985662421e-1
allele num: 65004
num of homozygotes: 3740

European (Finnish)
type: Population
allele count: 2922
allele frequency: 4.505087881591119e-1
allele num: 6486
num of homozygotes: 680

Latino
type: Population
allele count: 3859
allele frequency: 3.3844939484301e-1
allele num: 11402
num of homozygotes: 622

African
type: Population
allele count: 2872
allele frequency: 2.852602304330552e-1
allele num: 10068
num of homozygotes: 389

South Asian
type: Population
allele count: 5561
allele frequency: 3.426370918052988e-1
allele num: 16230
num of homozygotes: 987

QD
type: SiteQuality
SIO_000300: 1.872e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

FS
type: SiteQuality
SIO_000300: 2.948e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.060322e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2886
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.086515015895552e-5
allele num: 64798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.9747e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.812e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.564049e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.815e1

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.752541184717841e-4
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.087372645878358e-5
allele num: 64780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.013e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.55865e6

QD
type: SiteQuality
SIO_000300: 2.863e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.521e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15860
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64660
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.773469029654326e-5
allele num: 11398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.414e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 2.905e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

DP
type: SiteQuality
SIO_000300: 1.537107e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.672e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.344e1

GenotypeQuality
all individuals: 609
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30625
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.300306910128034e-5
allele num: 64514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.013693113169553e-4
allele num: 9932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 1.521265e6

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2884
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 84
allele frequency: 8.477997577714978e-3
allele num: 9908
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553904963172452e-5
allele num: 64354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.057827926657264e-3
allele num: 11344
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.350012700025399e-5
allele num: 15748
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.957e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 1.633e1

DP
type: SiteQuality
SIO_000300: 1.485913e6

GenotypeQuality
all individuals: 3261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6468
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561182752052955e-5
allele num: 64054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.179e1

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.438386e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 24254
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5178
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64006
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.031694433157253e-4
allele num: 9844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.436383e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.598e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.291e0

QD
type: SiteQuality
SIO_000300: 2.169e1

GenotypeQuality
all individuals: 199
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4041
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5248
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561816705191479e-5
allele num: 64028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15592
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 1.430088e6

QD
type: SiteQuality
SIO_000300: 7.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.631e1

VQSLOD
type: SiteQuality
SIO_000300: -1.729e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.106e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 4079
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22027
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5349
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.45244547683572e-5
allele num: 15498
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.935e0

QD
type: SiteQuality
SIO_000300: 1.769e1

FS
type: SiteQuality
SIO_000300: 6.899e0

VQSLOD
type: SiteQuality
SIO_000300: -9.108000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.403557e6

GenotypeQuality
all individuals: 860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 726
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.135779241141424e-4
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568676664365941e-5
allele num: 63748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.229e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.38146e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeQuality
all individuals: 1583
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574208173288836e-5
allele num: 63524
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.195723684210526e-4
allele num: 9728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.576292559899117e-4
allele num: 6344
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.775568181818182e-4
allele num: 11264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15366
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 1.363963e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 1.248e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 565
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5065
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.919015340706386e-5
allele num: 11212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.558237145855194e-5
allele num: 15248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.427e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 1.342729e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.546e0

VQSLOD
type: SiteQuality
SIO_000300: -2.021e0

GenotypeQuality
all individuals: 13711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3091
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5150
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589724023909449e-5
allele num: 62904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.004e1

FS
type: SiteQuality
SIO_000300: 1.808e0

DP
type: SiteQuality
SIO_000300: 1.322295e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: -1.695e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.016e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

GenotypeQuality
all individuals: 5206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14256
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2875
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4826
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.322926313004366e-4
allele num: 15118
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.546e1

FS
type: SiteQuality
SIO_000300: 1.926e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.320005e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

GenotypeQuality
all individuals: 1599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 722
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13640
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590128482381376e-5
allele num: 62888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.183e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.317311e6

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

QD
type: SiteQuality
SIO_000300: 1.047e1

GenotypeQuality
all individuals: 173
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.286145335680161e-5
allele num: 15908
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.456377e6

QD
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 915
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
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: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
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: 15908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.456377e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.545e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

GenotypeQuality
all individuals: 915
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.8405825624877e-5
allele num: 10162
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.456377e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.545e1

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16281
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 890
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15934
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 2.456278e6

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.155e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7432
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
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: -2.7e-2

FS
type: SiteQuality
SIO_000300: 4.112e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.047e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.6e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 2.456775e6

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 16276
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4456
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2957
bin: 7.25e1
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: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509251713000694e-5
allele num: 66258
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15800
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.457322e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.092000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.021e0

QD
type: SiteQuality
SIO_000300: 7.88e0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0