12-53701661-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701661
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701661
    reference: chr 12
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.1012C>A
  hgvsp: ENSP00000446885.1:p.Pro338Thr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.761C>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1285C>A
  hgvsp: ENSP00000377908.3:p.Pro429Thr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.852-164C>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1384C>A
  hgvsp: ENSP00000209873.4:p.Pro462Thr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1727C>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro462Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

12-53701665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701665
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701665
    reference: chr 12
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1380C>T
  hgvsp: ENST00000209873.4:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1281C>T
  hgvsp: ENST00000394384.3:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.1008C>T
  hgvsp: ENST00000550286.1:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1723C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.757C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.852-168C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44356
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe460Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-53701670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701670
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701670
    reference: chr 12
allele count: 7
allele frequency: 5.77062586559388e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1276A>G
  hgvsp: ENSP00000377908.3:p.Thr426Ala
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1375A>G
  hgvsp: ENSP00000209873.4:p.Thr459Ala
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1718A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.1003A>G
  hgvsp: ENSP00000446885.1:p.Thr335Ala
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.752A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+166A>G
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44356
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr459Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-53701678-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701678
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701677
    reference: chr 12
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.743delC
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+157delC
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1267delC
  hgvsp: ENSP00000377908.3:p.Gln423SerfsTer95
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1366delC
  hgvsp: ENSP00000209873.4:p.Gln456SerfsTer95
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.994delC
  hgvsp: ENSP00000446885.1:p.Gln332SerfsTer95
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1709delC
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44355
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln456SerfsTer95
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: TG
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

12-53701682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701682
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701682
    reference: chr 12
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1264C>T
  hgvsp: ENSP00000377908.3:p.Pro422Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1706C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+154C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.991C>T
  hgvsp: ENSP00000446885.1:p.Pro331Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.740C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1363C>T
  hgvsp: ENSP00000209873.4:p.Pro455Ser
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro455Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-53701688-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701688
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701688
    reference: chr 12
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1258G>T
  hgvsp: ENSP00000377908.3:p.Ala420Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1357G>T
  hgvsp: ENSP00000209873.4:p.Ala453Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1700G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.985G>T
  hgvsp: ENSP00000446885.1:p.Ala329Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.734G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+148G>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44354
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala453Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-53701695-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701695
    reference: chr 12
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1350G>C
  hgvsp: ENSP00000209873.4:p.Glu450Asp
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1251G>C
  hgvsp: ENSP00000377908.3:p.Glu417Asp
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+141G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.727G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1693G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.978G>C
  hgvsp: ENSP00000446885.1:p.Glu326Asp
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44354
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu450Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

12-53701697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701697
    reference: chr 12
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+139G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1691G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.976G>A
  hgvsp: ENSP00000446885.1:p.Glu326Lys
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1249G>A
  hgvsp: ENSP00000377908.3:p.Glu417Lys
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.725G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1348G>A
  hgvsp: ENSP00000209873.4:p.Glu450Lys
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu450Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

12-53701698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701698
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701698
    reference: chr 12
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1690G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1347G>A
  hgvsp: ENST00000209873.4:c.1347G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.724G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.975G>A
  hgvsp: ENST00000550286.1:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1248G>A
  hgvsp: ENST00000394384.3:c.1248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+138G>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly449Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-53701709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701709
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701709
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1679A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.964A>G
  hgvsp: ENSP00000446885.1:p.Ile322Val
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+127A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1336A>G
  hgvsp: ENSP00000209873.4:p.Ile446Val
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1237A>G
  hgvsp: ENSP00000377908.3:p.Ile413Val
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.713A>G
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile446Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-53701711-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701711
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701711
    reference: chr 12
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.711G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1235G>T
  hgvsp: ENSP00000377908.3:p.Gly412Val
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+125G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1677G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1334G>T
  hgvsp: ENSP00000209873.4:p.Gly445Val
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.962G>T
  hgvsp: ENSP00000446885.1:p.Gly321Val
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly445Val
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: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-53701717-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701717
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701717
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1675-4C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1233-4C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1332-4C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.705C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+119C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.960-4C>G
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44349
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1332-4C>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

12-53701726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701726
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701726
    reference: chr 12
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1233-13C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.696C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+110C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.960-13C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1675-13C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1332-13C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44348
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-53701731-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701731
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701731
    reference: chr 12
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1332-18G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.960-18G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1233-18G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.691G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+105G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1675-18G>T
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-53701739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701739
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701739
    reference: chr 12
allele count: 6
allele frequency: 4.946658532161525e-5
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+97G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1675-26G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1233-26G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1332-26G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.683G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.960-26G>A
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-53701740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701740
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701740
    reference: chr 12
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1233-27C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1675-27C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.960-27C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+96C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.682C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1332-27C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-53701761-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701761
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701761
    reference: chr 12
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1233-48A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.661A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1332-48A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1675-48A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.960-48A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+75A>G
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44358
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

12-53701786-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701786
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701786
    reference: chr 12
allele count: 6
allele frequency: 4.943723942455053e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+50C>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+50C>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.636C>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+50C>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+50C>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+50C>A
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13168
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20535
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
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genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-53701789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701789
    reference: chr 12
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+47C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+47C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+47C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.633C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+47C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+47C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-53701793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701793
    reference: chr 12
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+43C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+43C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.629C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+43C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+43C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+43C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-53701797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701797
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701797
    reference: chr 12
allele count: 9
allele frequency: 7.414608426290554e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+39C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+39C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.625C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+39C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+39C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+39C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

12-53701805-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701805
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701805
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.617C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+31C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+31C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+31C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+31C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+31C>G
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-53701809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701809
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701809
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+27T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+27T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+27T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+27T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.613T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+27T>C
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20492
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-53701812-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701812
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701812
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+24G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+24G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+24G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+24G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.610G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+24G>A
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum

12-53701825-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701825
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701825
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.597T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+11T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+11T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+11T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+11T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+11T>C
  variant of: http://identifiers.org/hgnc/13666
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/12-53701835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701835
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+1G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+1G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+1G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.587G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+1G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+1G>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1331+1G>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-53701835-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701835
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+1G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+1G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+1G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+1G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+1G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.587G>C
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1331+1G>C
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-53701835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701835
    reference: chr 12
allele count: 7
allele frequency: 5.766632616074076e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1232+1G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1331+1G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.587G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.959+1G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.851+1G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1674+1G>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20485
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1331+1G>A
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-53701840-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701840
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701840
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1670C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.955C>G
  hgvsp: ENSP00000446885.1:p.Pro319Ala
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1327C>G
  hgvsp: ENSP00000209873.4:p.Pro443Ala
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.582C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1228C>G
  hgvsp: ENSP00000377908.3:p.Pro410Ala
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.847C>G
  hgvsp: ENSP00000457518.1:p.Pro283Ala
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro443Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-53701846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701846
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.841C>T
  hgvsp: ENSP00000457518.1:p.Leu281Phe
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1664C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1321C>T
  hgvsp: ENSP00000209873.4:p.Leu441Phe
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.949C>T
  hgvsp: ENSP00000446885.1:p.Leu317Phe
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.576C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1222C>T
  hgvsp: ENSP00000377908.3:p.Leu408Phe
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu441Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

12-53701848-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701848
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.947A>T
  hgvsp: ENSP00000446885.1:p.Glu316Val
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.839A>T
  hgvsp: ENSP00000457518.1:p.Glu280Val
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1662A>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1319A>T
  hgvsp: ENSP00000209873.4:p.Glu440Val
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1220A>T
  hgvsp: ENSP00000377908.3:p.Glu407Val
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.574A>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20480
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu440Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

12-53701854-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701854
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.568T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1656T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.941T>C
  hgvsp: ENSP00000446885.1:p.Val314Ala
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1313T>C
  hgvsp: ENSP00000209873.4:p.Val438Ala
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1214T>C
  hgvsp: ENSP00000377908.3:p.Val405Ala
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.833T>C
  hgvsp: ENSP00000457518.1:p.Val278Ala
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val438Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

12-53701856-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701856
    reference: chr 12
allele count: 9
allele frequency: 7.414241934952384e-5
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.939T>C
  hgvsp: ENST00000550286.1:c.939T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1654T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1311T>C
  hgvsp: ENST00000209873.4:c.1311T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1212T>C
  hgvsp: ENST00000394384.3:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.831T>C
  hgvsp: ENST00000548931.1:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.566T>C
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14750
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro437Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-53701857-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701857
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701857
    reference: chr 12
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.938C>G
  hgvsp: ENSP00000446885.1:p.Pro313Arg
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1653C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1310C>G
  hgvsp: ENSP00000209873.4:p.Pro437Arg
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.830C>G
  hgvsp: ENSP00000457518.1:p.Pro277Arg
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1211C>G
  hgvsp: ENSP00000377908.3:p.Pro404Arg
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.565C>G
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14736
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro437Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

12-53701858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701858
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701858
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1309C>T
  hgvsp: ENSP00000209873.4:p.Pro437Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.937C>T
  hgvsp: ENSP00000446885.1:p.Pro313Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1652C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.829C>T
  hgvsp: ENSP00000457518.1:p.Pro277Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.564C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1210C>T
  hgvsp: ENSP00000377908.3:p.Pro404Ser
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14747
  bin: 6.25e1
  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: 2262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro437Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

12-53701859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701859
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.936C>T
  hgvsp: ENST00000550286.1:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1209C>T
  hgvsp: ENST00000394384.3:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.563C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.828C>T
  hgvsp: ENST00000548931.1:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1308C>T
  hgvsp: ENST00000209873.4:c.1308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1651C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser436Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

12-53701860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701860
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701860
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1307G>A
  hgvsp: ENSP00000209873.4:p.Ser436Asn
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1650G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.935G>A
  hgvsp: ENSP00000446885.1:p.Ser312Asn
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1208G>A
  hgvsp: ENSP00000377908.3:p.Ser403Asn
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.562G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.827G>A
  hgvsp: ENSP00000457518.1:p.Ser276Asn
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser436Asn
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-53701862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701862
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701862
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1305C>T
  hgvsp: ENST00000209873.4:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1206C>T
  hgvsp: ENST00000394384.3:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1648C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.933C>T
  hgvsp: ENST00000550286.1:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.560C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.825C>T
  hgvsp: ENST00000548931.1:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn435Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

12-53701866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701866
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701866
    reference: chr 12
allele count: 76
allele frequency: 6.261224893312023e-4
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1202G>A
  hgvsp: ENSP00000377908.3:p.Arg401Gln
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1301G>A
  hgvsp: ENSP00000209873.4:p.Arg434Gln
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1644G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.929G>A
  hgvsp: ENSP00000446885.1:p.Arg310Gln
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.556G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.821G>A
  hgvsp: ENSP00000457518.1:p.Arg274Gln
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg434Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-53701867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701867
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701867
    reference: chr 12
allele count: 6
allele frequency: 4.942990838990312e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.555C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.820C>T
  hgvsp: ENSP00000457518.1:p.Arg274Ter
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.928C>T
  hgvsp: ENSP00000446885.1:p.Arg310Ter
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1201C>T
  hgvsp: ENSP00000377908.3:p.Arg401Ter
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1300C>T
  hgvsp: ENSP00000209873.4:p.Arg434Ter
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1643C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg434Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-53701869-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701869
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701869
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.553C>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1641C>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.926C>A
  hgvsp: ENSP00000446885.1:p.Thr309Asn
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1199C>A
  hgvsp: ENSP00000377908.3:p.Thr400Asn
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.818C>A
  hgvsp: ENSP00000457518.1:p.Thr273Asn
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1298C>A
  hgvsp: ENSP00000209873.4:p.Thr433Asn
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  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: 4139
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr433Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-53701869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701869
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701869
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.926C>T
  hgvsp: ENSP00000446885.1:p.Thr309Ile
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.818C>T
  hgvsp: ENSP00000457518.1:p.Thr273Ile
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.553C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1199C>T
  hgvsp: ENSP00000377908.3:p.Thr400Ile
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1298C>T
  hgvsp: ENSP00000209873.4:p.Thr433Ile
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1641C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr433Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-53701871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701871
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701871
    reference: chr 12
allele count: 7
allele frequency: 5.76672762921589e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.816C>T
  hgvsp: ENST00000548931.1:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.924C>T
  hgvsp: ENST00000550286.1:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1296C>T
  hgvsp: ENST00000209873.4:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1197C>T
  hgvsp: ENST00000394384.3:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1639C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.551C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg432Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-53701872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701872
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701872
    reference: chr 12
allele count: 5
allele frequency: 4.119159032491926e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.815G>A
  hgvsp: ENSP00000457518.1:p.Arg272His
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1295G>A
  hgvsp: ENSP00000209873.4:p.Arg432His
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1638G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1196G>A
  hgvsp: ENSP00000377908.3:p.Arg399His
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.550G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.923G>A
  hgvsp: ENSP00000446885.1:p.Arg308His
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20430
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg432His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum

12-53701872-CGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701872
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701870
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.921_922delTC
  hgvsp: ENSP00000446885.1:p.Phe307LeufsTer9
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.548_549delTC
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1636_1637delTC
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.813_814delTC
  hgvsp: ENSP00000457518.1:p.Phe271LeufsTer9
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1194_1195delTC
  hgvsp: ENSP00000377908.3:p.Phe398LeufsTer9
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1293_1294delTC
  hgvsp: ENSP00000209873.4:p.Phe431LeufsTer9
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe431LeufsTer9
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: CGA
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-53701873-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701873
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701873
    reference: chr 12
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.549C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1294C>T
  hgvsp: ENSP00000209873.4:p.Arg432Cys
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1637C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.814C>T
  hgvsp: ENSP00000457518.1:p.Arg272Cys
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1195C>T
  hgvsp: ENSP00000377908.3:p.Arg399Cys
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.922C>T
  hgvsp: ENSP00000446885.1:p.Arg308Cys
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20421
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  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: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg432Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

12-53701875-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701875
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701875
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.812T>A
  hgvsp: ENSP00000457518.1:p.Phe271Tyr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.920T>A
  hgvsp: ENSP00000446885.1:p.Phe307Tyr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1635T>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1292T>A
  hgvsp: ENSP00000209873.4:p.Phe431Tyr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1193T>A
  hgvsp: ENSP00000377908.3:p.Phe398Tyr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.547T>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20422
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe431Tyr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

12-53701879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701879
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701879
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.543C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.916C>T
  hgvsp: ENSP00000446885.1:p.Leu306Phe
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1631C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.808C>T
  hgvsp: ENSP00000457518.1:p.Leu270Phe
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1189C>T
  hgvsp: ENSP00000377908.3:p.Leu397Phe
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1288C>T
  hgvsp: ENSP00000209873.4:p.Leu430Phe
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu430Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-53701880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701880
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701880
    reference: chr 12
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.807C>T
  hgvsp: ENST00000548931.1:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1630C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1188C>T
  hgvsp: ENST00000394384.3:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.915C>T
  hgvsp: ENST00000550286.1:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.542C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1287C>T
  hgvsp: ENST00000209873.4:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu429Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-53701880-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701880
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701880
    reference: chr 12
allele count: 4
allele frequency: 3.29549012176836e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1630C>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.807C>A
  hgvsp: ENST00000548931.1:c.807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1188C>A
  hgvsp: ENST00000394384.3:c.1188C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.915C>A
  hgvsp: ENST00000550286.1:c.915C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1287C>A
  hgvsp: ENST00000209873.4:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.542C>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20420
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu429Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-53701882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701882
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701882
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.913C>T
  hgvsp: ENSP00000446885.1:p.Leu305Phe
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1186C>T
  hgvsp: ENSP00000377908.3:p.Leu396Phe
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.540C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1628C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1285C>T
  hgvsp: ENSP00000209873.4:p.Leu429Phe
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.805C>T
  hgvsp: ENSP00000457518.1:p.Leu269Phe
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20415
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu429Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

12-53701895-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701895
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701895
    reference: chr 12
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1272T>C
  hgvsp: ENST00000209873.4:c.1272T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.527T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.900T>C
  hgvsp: ENST00000550286.1:c.900T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1173T>C
  hgvsp: ENST00000394384.3:c.1173T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.792T>C
  hgvsp: ENST00000548931.1:c.792T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1615T>C
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20410
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly424Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/12-53701897-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701897
    reference: chr 12
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1171G>T
  hgvsp: ENSP00000377908.3:p.Gly391Cys
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1613G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.790G>T
  hgvsp: ENSP00000457518.1:p.Gly264Cys
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1270G>T
  hgvsp: ENSP00000209873.4:p.Gly424Cys
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.898G>T
  hgvsp: ENSP00000446885.1:p.Gly300Cys
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.525G>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly424Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-53701912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701912
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701912
    reference: chr 12
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1598C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.883C>T
  hgvsp: ENSP00000446885.1:p.Pro295Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.510C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.775C>T
  hgvsp: ENSP00000457518.1:p.Pro259Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1255C>T
  hgvsp: ENSP00000209873.4:p.Pro419Ser
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1156C>T
  hgvsp: ENSP00000377908.3:p.Pro386Ser
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6922
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro419Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

12-53701930-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701930
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701930
    reference: chr 12
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1250-13C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.770-13C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1151-13C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1593-13C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.878-13C>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.505-13C>G
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14025
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-53701938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701938
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701938
    reference: chr 12
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.878-21C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.505-21C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1593-21C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.770-21C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1151-21C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1250-21C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-53701949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701949
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701949
    reference: chr 12
allele count: 8
allele frequency: 6.615397337302572e-5
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.878-32T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1151-32T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.770-32T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1593-32T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.505-32T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1250-32T>C
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20353
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

12-53701951-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701951
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701951
    reference: chr 12
allele count: 45
allele frequency: 3.723994107813767e-4
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.878-34G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.770-34G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.505-34G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1151-34G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1250-34G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1593-34G>C
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10561
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20380
  bin: 9.75e1
  variant carriers: 45
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-53701960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701960
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701960
    reference: chr 12
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.878-43G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1151-43G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1250-43G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1593-43G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.505-43G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.770-43G>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

12-53701966-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701966
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701966
    reference: chr 12
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.770-49G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.878-49G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.505-49G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1250-49G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1151-49G>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1593-49G>C
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-53701967-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701967
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701967
    reference: chr 12
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1593-50G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.878-50G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1250-50G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.770-50G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1151-50G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.505-50G>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4767
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-53701968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53701968
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53701968
    reference: chr 12
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1593-51G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.505-51G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1151-51G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1250-51G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.770-51G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.878-51G>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20382
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

12-53702023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702023
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702023
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.769+43C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1150+43C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1249+43C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1592+43C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.877+43C>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.504+43C>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

12-53702030-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702030
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702030
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1150+36A>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.504+36A>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.769+36A>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1249+36A>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.877+36A>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1592+36A>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-53702036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702036
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.769+30A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1150+30A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1249+30A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1592+30A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.877+30A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.504+30A>G
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-53702040-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702040
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702040
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.769+26G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.877+26G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1592+26G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.504+26G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1249+26G>T
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1150+26G>T
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

12-53702046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702046
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702046
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1249+20G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.504+20G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1592+20G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.769+20G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1150+20G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.877+20G>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46775
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-53702053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702053
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702053
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1150+13G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.769+13G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1249+13G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1592+13G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.504+13G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.877+13G>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

12-53702058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702058
    reference: chr 12
allele count: 51
allele frequency: 4.201057678050709e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.877+8G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1150+8G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1592+8G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.504+8G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.769+8G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1249+8G>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  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: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46794
  bin: 9.75e1
  variant carriers: 51
hgvs: c.1249+8G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

12-53702065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702065
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702065
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.877+1G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.769+1G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1592+1G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1150+1G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.504+1G>A
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1249+1G>A
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1249+1G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-53702068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702068
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702068
    reference: chr 12
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.767A>G
  hgvsp: ENSP00000457518.1:p.Lys256Arg
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1247A>G
  hgvsp: ENSP00000209873.4:p.Lys416Arg
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.875A>G
  hgvsp: ENSP00000446885.1:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.502A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1590A>G
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1148A>G
  hgvsp: ENSP00000377908.3:p.Lys383Arg
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys416Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-53702070-CATAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702066
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.496_499delTTAT
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1584_1587delTTAT
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1241_1244delTTAT
  hgvsp: ENSP00000209873.4:p.Leu414ArgfsTer136
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1142_1145delTTAT
  hgvsp: ENSP00000377908.3:p.Leu381ArgfsTer136
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.869_872delTTAT
  hgvsp: ENSP00000446885.1:p.Leu290ArgfsTer136
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.761_764delTTAT
  hgvsp: ENSP00000457518.1:p.Leu254ArgfsTer52
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 6.75e1
  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: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu414ArgfsTer136
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: CATAA
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-53702071-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53702071
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53702071
    reference: chr 12
allele count: 13
allele frequency: 1.07080491581826e-4
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000552876
  gene symbol: AAAS
  hgvsc: ENST00000552876.1:n.1587T>C
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000377908
  ensembl transcript: ENST00000394384
  gene symbol: AAAS
  hgvsc: ENST00000394384.3:c.1145T>C
  hgvsp: ENSP00000377908.3:p.Met382Thr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000457518
  ensembl transcript: ENST00000548931
  gene symbol: AAAS
  hgvsc: ENST00000548931.1:c.764T>C
  hgvsp: ENSP00000457518.1:p.Met255Thr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000446885
  ensembl transcript: ENST00000550286
  gene symbol: AAAS
  hgvsc: ENST00000550286.1:c.872T>C
  hgvsp: ENSP00000446885.1:p.Met291Thr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000094914
  ensembl protein: ENSP00000209873
  ensembl transcript: ENST00000209873
  gene symbol: AAAS
  hgvsc: ENST00000209873.4:c.1244T>C
  hgvsp: ENSP00000209873.4:p.Met415Thr
  variant of: http://identifiers.org/hgnc/13666
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000094914
  ensembl transcript: ENST00000550033
  gene symbol: AAAS
  hgvsc: ENST00000550033.1:n.499T>C
  variant of: http://identifiers.org/hgnc/13666
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met415Thr
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44355
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2169
bin: 7.75e1
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: 10380
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.724836e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.125e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 8.75e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

FS
type: SiteQuality
SIO_000300: 1.443e0

VQSLOD
type: SiteQuality
SIO_000300: -2.62e-2

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2169
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.587e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 1.054e1

DP
type: SiteQuality
SIO_000300: 3.725043e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.037e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

Latino
type: Population
allele count: 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: 16512
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 3.725378e6

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
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: 11578
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.019e1

DP
type: SiteQuality
SIO_000300: 3.725179e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.901e0

FS
type: SiteQuality
SIO_000300: 1.416e0

QD
type: SiteQuality
SIO_000300: 1.26e1

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2235
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 2460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3561
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0163e1

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.847e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

DP
type: SiteQuality
SIO_000300: 3.725225e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.075e0

DP
type: SiteQuality
SIO_000300: 3.7251e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.322e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

QD
type: SiteQuality
SIO_000300: 1.313e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.42e-1

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1319
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 3.7248e6

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

GenotypeQuality
all individuals: 3520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

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

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

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: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.724761e6

QD
type: SiteQuality
SIO_000300: 8.99e0

GenotypeQuality
all individuals: 2803
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1607
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44354
bin: 9.75e1
variant carriers: 1

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: 8654
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 7.619e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: -2.635e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.762e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 3.724663e6

QD
type: SiteQuality
SIO_000300: 1.301e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.363e0

VQSLOD
type: SiteQuality
SIO_000300: -1.408e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.194e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.376e0

QD
type: SiteQuality
SIO_000300: 1.572e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
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

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: 11572
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 2.236e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.245e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 5.745e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.723914e6

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

GenotypeQuality
all individuals: 3466
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66696
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: 11572
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

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

DP
type: SiteQuality
SIO_000300: 3.723393e6

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 9.25e1
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Other
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allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.304e0

BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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MQRankSum
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SIO_000300: 1.06e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

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

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 3.652e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
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South Asian
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Other
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allele count: 0
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allele num: 904
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Latino
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allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
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African
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allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
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SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 7.458e0

DP
type: SiteQuality
SIO_000300: 3.717692e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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Other
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allele frequency: 0.0e0
allele num: 904
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 1.37e0

ClippingRankSum
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SIO_000300: -9.4e-2

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.434e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2801
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.715698e6

QD
type: SiteQuality
SIO_000300: 1.433e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.16e-1

FS
type: SiteQuality
SIO_000300: 3.351e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.78e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5001
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GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.993614533681087e-5
allele num: 66714
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 1.185e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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: 11572
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.135e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.789e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.821e0

FS
type: SiteQuality
SIO_000300: 1.3948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
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ClippingRankSum
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DP
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10398
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 9
allele frequency: 7.774706288873532e-4
allele num: 11576
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.999959e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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MQ
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3038
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
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East Asian
type: Population
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allele num: 8654
num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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allele num: 6614
num of homozygotes: 0

FS
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MQ
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -6.900000000000001e-2

GenotypeQuality
all individuals: 3037
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7159
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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: 11576
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: 904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.999106e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.321e0

FS
type: SiteQuality
SIO_000300: 2.381e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.235e1

MQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

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

GenotypeQuality
all individuals: 3830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 8.75e1
variant carriers: 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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.998975e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 9.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -3.757e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.299e1

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3827
bin: 7.25e1
variant carriers: 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: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.999197e6

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

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

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3827
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
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: 904
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: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

DP
type: SiteQuality
SIO_000300: 2.999197e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4967
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495863805299125e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

DP
type: SiteQuality
SIO_000300: 2.999197e6

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

GenotypeQuality
all individuals: 20481
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7151
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
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: 10398
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.223e0

FS
type: SiteQuality
SIO_000300: 1.0624e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

QD
type: SiteQuality
SIO_000300: 9.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 2.998905e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20480
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3828
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.413e1

FS
type: SiteQuality
SIO_000300: 1.013e0

DP
type: SiteQuality
SIO_000300: 2.998912e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.429e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2261
bin: 8.75e1
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: 8654
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 2.998909e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.532e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

FS
type: SiteQuality
SIO_000300: 4.477e0

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2261
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 2.998859e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 20479
bin: 9.75e1
variant carriers: 9

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: 11574
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348759141589737e-4
allele num: 66728
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.757e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.045e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.999038e6

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3828
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495863805299125e-5
allele num: 66728
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: 10400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.998666e6

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 3.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20469
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 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: 1.498621268433042e-5
allele num: 66728
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: 8654
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

DP
type: SiteQuality
SIO_000300: 2.998458e6

MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

FS
type: SiteQuality
SIO_000300: 5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.121e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 4957
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4144
bin: 8.25e1
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: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.496e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 2.998373e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.106e0

MQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20468
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4958
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variant carriers: 0

GenotypeQuality
all individuals: 3034
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
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: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.341e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.481e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 2.081e0

VQSLOD
type: SiteQuality
SIO_000300: -7.53e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

DP
type: SiteQuality
SIO_000300: 2.998371e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.424e0

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

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7147
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20468
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2260
bin: 8.75e1
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 11574
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.49e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.998315e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.207e0

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20480
bin: 9.75e1
variant carriers: 76

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 74
allele frequency: 1.109079464044843e-3
allele num: 66722
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 3.000238e6

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

GenotypeQuality
all individuals: 20435
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994844433786943e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.184e1

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

FS
type: SiteQuality
SIO_000300: 1.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 2.997255e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20432
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variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
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

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: 8654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.996947e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.016e1

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2260
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GenotypeQuality
all individuals: 11
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

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

QD
type: SiteQuality
SIO_000300: 1.016e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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Latino
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allele count: 0
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allele num: 11574
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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European (Finnish)
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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: 66726
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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African
type: Population
allele count: 7
allele frequency: 6.73076923076923e-4
allele num: 10400
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South Asian
type: Population
allele count: 0
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allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.098e1

FS
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.997049e6

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14795
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GenotypeQuality
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variant carriers: 0

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

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

African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994664748373947e-5
allele num: 66726
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14795
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3029
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20430
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

DP
type: SiteQuality
SIO_000300: 2.99684e6

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7149
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3832
bin: 7.25e1
variant carriers: 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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e0

DP
type: SiteQuality
SIO_000300: 2.996681e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.379e0

QD
type: SiteQuality
SIO_000300: 1.217e1

VQSLOD
type: SiteQuality
SIO_000300: -1.049e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
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: -5.38e-1

DP
type: SiteQuality
SIO_000300: 2.996442e6

QD
type: SiteQuality
SIO_000300: 1.224e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

MQ
type: SiteQuality
SIO_000300: 5.688e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4948
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20420
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.121e0

QD
type: SiteQuality
SIO_000300: 1.13e1

DP
type: SiteQuality
SIO_000300: 2.996379e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

GenotypeQuality
all individuals: 3829
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7149
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20420
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3026
bin: 9.25e1
variant carriers: 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: 8654
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.9963e6

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3829
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
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: 1
allele frequency: 1.103752759381898e-3
allele num: 906
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: 8654
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

QD
type: SiteQuality
SIO_000300: 1.028e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

DP
type: SiteQuality
SIO_000300: 2.9963e6

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

GenotypeQuality
all individuals: 4137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3026
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 66724
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: 7.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

FS
type: SiteQuality
SIO_000300: 4.589e0

QD
type: SiteQuality
SIO_000300: 1.195e1

DP
type: SiteQuality
SIO_000300: 2.996043e6

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

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3021
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3812
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 0
allele frequency: 0.0e0
allele num: 8652
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: 6610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.88e0

QD
type: SiteQuality
SIO_000300: 1.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -6.850000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 2.99407e6

FS
type: SiteQuality
SIO_000300: 3.03e0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20406
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3804
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3015
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
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: 11564
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

DP
type: SiteQuality
SIO_000300: 2.99386e6

MQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -2.336e-1

FS
type: SiteQuality
SIO_000300: 4.492e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 8.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3003
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20390
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3743
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variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.984688e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.534e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.524e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 318
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2991
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variant carriers: 0

GenotypeQuality
all individuals: 392
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variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 8604
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 2.957874e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

FS
type: SiteQuality
SIO_000300: 6.262e0

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeQuality
all individuals: 799
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2209
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.327746741154562e-4
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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: 16502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.247e1

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 2.914e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.249e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.17e-1

DP
type: SiteQuality
SIO_000300: 2.935433e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 4.75e1
variant carriers: 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: 6602
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.203260836867912e-4
allele num: 66486
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.914477e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

QD
type: SiteQuality
SIO_000300: 1.552e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.147e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.608695652173913e-4
allele num: 11500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

African
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allele count: 42
allele frequency: 4.050144648023143e-3
allele num: 10370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.574e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 2.912202e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
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variant carriers: 0

GenotypeQuality
all individuals: 20352
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507658907248824e-5
allele num: 66328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.31e1

FS
type: SiteQuality
SIO_000300: 2.316e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 2.904855e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4756
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507113576079093e-5
allele num: 66352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.455e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 2.90632e6

FS
type: SiteQuality
SIO_000300: 6.511e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.474e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.90745e6

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

FS
type: SiteQuality
SIO_000300: 1.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 3001
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4805
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.098e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e0

DP
type: SiteQuality
SIO_000300: 2.908973e6

QD
type: SiteQuality
SIO_000300: 1.26e1

MQ
type: SiteQuality
SIO_000300: 5.895e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.278e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.432e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.638e0

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.642676e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
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: 5.932e1

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

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.912e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2357
bin: 6.25e1
variant carriers: 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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 7.629e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

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

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

DP
type: SiteQuality
SIO_000300: 3.645934e6

GenotypeQuality
all individuals: 2235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46761
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
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 (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.807e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 3.646962e6

FS
type: SiteQuality
SIO_000300: 1.302e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

DP
type: SiteQuality
SIO_000300: 3.647745e6

FS
type: SiteQuality
SIO_000300: 3.745e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.553e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
all individuals: 1195
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 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: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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: -1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

MQ
type: SiteQuality
SIO_000300: 5.834e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.61e-1

DP
type: SiteQuality
SIO_000300: 3.648249e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.894e0

FS
type: SiteQuality
SIO_000300: 2.127e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

QD
type: SiteQuality
SIO_000300: 8.300000000000001e0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 49
allele frequency: 4.711538461538461e-3
allele num: 10400
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: -3.01e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.464e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 3.650244e6

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

FS
type: SiteQuality
SIO_000300: 2.019e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

GenotypeQuality
all individuals: 2656
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46787
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2401
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
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: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.012e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.649483e6

GenotypeQuality
all individuals: 1630
bin: 8.75e1
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: 2655
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46788
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2395
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
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: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.156e0

DP
type: SiteQuality
SIO_000300: 3.649642e6

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.407e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

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

GenotypeQuality
all individuals: 2394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46788
bin: 9.75e1
variant carriers: 1

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

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

European (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: 66738
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: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.327e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.999e0

DP
type: SiteQuality
SIO_000300: 3.649717e6

FS
type: SiteQuality
SIO_000300: 4.423e0

MQRankSum
type: SiteQuality
SIO_000300: -2.443e0

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0