3-52242200-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242200
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242200
    reference: chr 3
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1267G>T
  hgvsp: ENSP00000417719.1:p.Gly423Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1267G>T
  hgvsp: ENSP00000309259.2:p.Gly423Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1267G>T
  hgvsp: ENSP00000418779.1:p.Gly423Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1433G>T
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1267G>T
  hgvsp: ENSP00000378416.2:p.Gly423Cys
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly423Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

3-52242201-GCGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242201
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242197
    reference: chr 3
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1269_1272delCGGA
  hgvsp: ENSP00000417719.1:p.Gly425LeufsTer35
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1269_1272delCGGA
  hgvsp: ENSP00000309259.2:p.Gly425LeufsTer35
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1269_1272delCGGA
  hgvsp: ENSP00000418779.1:p.Gly425LeufsTer35
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1269_1272delCGGA
  hgvsp: ENSP00000378416.2:p.Gly425LeufsTer35
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1435_120+1438delCGGA
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly425LeufsTer35
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: GCGGA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-52242202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242202
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242202
    reference: chr 3
allele count: 82
allele frequency: 6.772941273643347e-4
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1435C>T
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1269C>T
  hgvsp: ENST00000310271.2:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1269C>T
  hgvsp: ENST00000484952.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1269C>T
  hgvsp: ENST00000394965.2:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1269C>T
  hgvsp: ENST00000469224.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15811
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21479
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7710
  bin: 9.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly423Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

3-52242203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242203
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242203
    reference: chr 3
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1436G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1270G>A
  hgvsp: ENSP00000417719.1:p.Gly424Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1270G>A
  hgvsp: ENSP00000378416.2:p.Gly424Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1270G>A
  hgvsp: ENSP00000418779.1:p.Gly424Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1270G>A
  hgvsp: ENSP00000309259.2:p.Gly424Arg
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7653
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly424Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-52242217-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242217
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242217
    reference: chr 3
allele count: 3
allele frequency: 2.473818751546137e-5
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1450T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1284T>C
  hgvsp: ENST00000484952.1:c.1284T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1284T>C
  hgvsp: ENST00000310271.2:c.1284T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1284T>C
  hgvsp: ENST00000394965.2:c.1284T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1284T>C
  hgvsp: ENST00000469224.1:c.1284T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Asp428Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

3-52242219-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242219
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242219
    reference: chr 3
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1452G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1286G>A
  hgvsp: ENSP00000417719.1:p.Arg429Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1286G>A
  hgvsp: ENSP00000418779.1:p.Arg429Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1286G>A
  hgvsp: ENSP00000309259.2:p.Arg429Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1286G>A
  hgvsp: ENSP00000378416.2:p.Arg429Gln
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28702
  bin: 6.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg429Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-52242231-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242231
    reference: chr 3
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1464T>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1298T>A
  hgvsp: ENSP00000378416.2:p.Met433Lys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1298T>A
  hgvsp: ENSP00000418779.1:p.Met433Lys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1298T>A
  hgvsp: ENSP00000417719.1:p.Met433Lys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1298T>A
  hgvsp: ENSP00000309259.2:p.Met433Lys
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  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: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met433Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

3-52242231-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242231
    reference: chr 3
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1464T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1298T>C
  hgvsp: ENSP00000418779.1:p.Met433Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1298T>C
  hgvsp: ENSP00000378416.2:p.Met433Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1298T>C
  hgvsp: ENSP00000417719.1:p.Met433Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1298T>C
  hgvsp: ENSP00000309259.2:p.Met433Thr
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met433Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

3-52242234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242234
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242234
    reference: chr 3
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1301C>T
  hgvsp: ENSP00000309259.2:p.Pro434Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1301C>T
  hgvsp: ENSP00000378416.2:p.Pro434Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1301C>T
  hgvsp: ENSP00000417719.1:p.Pro434Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1301C>T
  hgvsp: ENSP00000418779.1:p.Pro434Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1467C>T
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro434Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

3-52242241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242241
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242241
    reference: chr 3
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1308G>A
  hgvsp: ENSP00000418779.1:p.Met436Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1308G>A
  hgvsp: ENSP00000417719.1:p.Met436Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1308G>A
  hgvsp: ENSP00000309259.2:p.Met436Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1474G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1308G>A
  hgvsp: ENSP00000378416.2:p.Met436Ile
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  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: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met436Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-52242271-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242271
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242271
    reference: chr 3
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1330+8T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1504T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1330+8T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1330+8T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1330+8T>C
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1330+8T>C
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-52242274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242274
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242274
    reference: chr 3
allele count: 2
allele frequency: 1.654478673769895e-5
allele num: 120884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1330+11A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1507A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1330+11A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1330+11A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1330+11A>G
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7635
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-52242310-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242310
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242310
    reference: chr 3
allele count: 1
allele frequency: 8.351567589236499e-6
allele num: 119738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1330+47A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1330+47A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1330+47A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1543A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1330+47A>G
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6189
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

3-52242313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52242313
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52242313
    reference: chr 3
allele count: 1
allele frequency: 8.365540664893172e-6
allele num: 119538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1330+50G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.120+1546G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1330+50G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1330+50G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1330+50G>A
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13000
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4265
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-52245251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245251
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245251
    reference: chr 3
allele count: 31
allele frequency: 2.58842390033733e-4
allele num: 119764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1331-48G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1331-48G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.121-48G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1331-48G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1331-48G>A
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

3-52245272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245272
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245272
    reference: chr 3
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1331-27G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1331-27G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1331-27G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.121-27G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1331-27G>A
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-52245274-AATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245274
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245271
    reference: chr 3
allele count: 14
allele frequency: 1.163003206565984e-4
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.121-23_121-21delTTA
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1331-23_1331-21delTTA
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1331-23_1331-21delTTA
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1331-23_1331-21delTTA
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1331-23_1331-21delTTA
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: AATT
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-52245287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245287
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245287
    reference: chr 3
allele count: 11
allele frequency: 9.094216078574027e-5
allele num: 120956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.121-12A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1331-12A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1331-12A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1331-12A>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1331-12A>G
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19976
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-52245288-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245288
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245288
    reference: chr 3
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1331-11T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.121-11T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1331-11T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1331-11T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1331-11T>C
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19970
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

3-52245314-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245314
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245314
    reference: chr 3
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1346G>C
  hgvsp: ENSP00000417719.1:p.Cys449Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1346G>C
  hgvsp: ENSP00000418779.1:p.Cys449Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1346G>C
  hgvsp: ENSP00000378416.2:p.Cys449Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.136G>C
  hgvsp: ENSP00000417352.1:p.Cys46Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1346G>C
  hgvsp: ENSP00000309259.2:p.Cys449Ser
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19971
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys449Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-52245316-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245316
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245316
    reference: chr 3
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.138G>T
  hgvsp: ENSP00000417352.1:p.Val47Phe
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1348G>T
  hgvsp: ENSP00000378416.2:p.Val450Phe
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1348G>T
  hgvsp: ENSP00000418779.1:p.Val450Phe
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1348G>T
  hgvsp: ENSP00000417719.1:p.Val450Phe
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1348G>T
  hgvsp: ENSP00000309259.2:p.Val450Phe
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val450Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-52245330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245330
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245330
    reference: chr 3
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.152C>T
  hgvsp: ENST00000493402.1:c.152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1362C>T
  hgvsp: ENST00000484952.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1362C>T
  hgvsp: ENST00000394965.2:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1362C>T
  hgvsp: ENST00000310271.2:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1362C>T
  hgvsp: ENST00000469224.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14668
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile454Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-52245331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245331
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245331
    reference: chr 3
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1363G>A
  hgvsp: ENSP00000309259.2:p.Ala455Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1363G>A
  hgvsp: ENSP00000378416.2:p.Ala455Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.153G>A
  hgvsp: ENSP00000417352.1:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1363G>A
  hgvsp: ENSP00000418779.1:p.Ala455Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1363G>A
  hgvsp: ENSP00000417719.1:p.Ala455Thr
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19970
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala455Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

3-52245331-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245331
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245331
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1363G>T
  hgvsp: ENSP00000309259.2:p.Ala455Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1363G>T
  hgvsp: ENSP00000418779.1:p.Ala455Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.153G>T
  hgvsp: ENSP00000417352.1:p.Ala52Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1363G>T
  hgvsp: ENSP00000417719.1:p.Ala455Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1363G>T
  hgvsp: ENSP00000378416.2:p.Ala455Ser
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19970
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala455Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

3-52245338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245338
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245338
    reference: chr 3
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1370C>T
  hgvsp: ENSP00000378416.2:p.Thr457Met
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1370C>T
  hgvsp: ENSP00000418779.1:p.Thr457Met
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1370C>T
  hgvsp: ENSP00000417719.1:p.Thr457Met
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1370C>T
  hgvsp: ENSP00000309259.2:p.Thr457Met
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.160C>T
  hgvsp: ENSP00000417352.1:p.Thr54Met
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr457Met
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

3-52245339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245339
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245339
    reference: chr 3
allele count: 4
allele frequency: 3.296304842271814e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1371G>A
  hgvsp: ENST00000484952.1:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.161G>A
  hgvsp: ENST00000493402.1:c.161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1371G>A
  hgvsp: ENST00000469224.1:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1371G>A
  hgvsp: ENST00000394965.2:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1371G>A
  hgvsp: ENST00000310271.2:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19972
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr457Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

3-52245351-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245351
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1383T>G
  hgvsp: ENSP00000418779.1:p.Ile461Met
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.173T>G
  hgvsp: ENSP00000417352.1:p.Ile58Met
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1383T>G
  hgvsp: ENSP00000417719.1:p.Ile461Met
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1383T>G
  hgvsp: ENSP00000378416.2:p.Ile461Met
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1383T>G
  hgvsp: ENSP00000309259.2:p.Ile461Met
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile461Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-52245357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245357
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245357
    reference: chr 3
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1389C>T
  hgvsp: ENST00000310271.2:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1389C>T
  hgvsp: ENST00000469224.1:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.179C>T
  hgvsp: ENST00000493402.1:c.179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1389C>T
  hgvsp: ENST00000484952.1:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1389C>T
  hgvsp: ENST00000394965.2:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19969
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr463Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-52245358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245358
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245358
    reference: chr 3
allele count: 4
allele frequency: 3.29614186594591e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1390G>A
  hgvsp: ENSP00000418779.1:p.Val464Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1390G>A
  hgvsp: ENSP00000309259.2:p.Val464Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1390G>A
  hgvsp: ENSP00000378416.2:p.Val464Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1390G>A
  hgvsp: ENSP00000417719.1:p.Val464Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.180G>A
  hgvsp: ENSP00000417352.1:p.Val61Ile
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 8.25e1
  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: 14568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val464Ile
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-52245361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245361
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245361
    reference: chr 3
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1393C>T
  hgvsp: ENSP00000418779.1:p.Arg465Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1393C>T
  hgvsp: ENSP00000378416.2:p.Arg465Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.183C>T
  hgvsp: ENSP00000417352.1:p.Arg62Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1393C>T
  hgvsp: ENSP00000417719.1:p.Arg465Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1393C>T
  hgvsp: ENSP00000309259.2:p.Arg465Trp
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19968
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg465Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-52245363-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245363
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245363
    reference: chr 3
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.185G>C
  hgvsp: ENST00000493402.1:c.185G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1395G>C
  hgvsp: ENST00000484952.1:c.1395G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1395G>C
  hgvsp: ENST00000469224.1:c.1395G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1395G>C
  hgvsp: ENST00000310271.2:c.1395G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1395G>C
  hgvsp: ENST00000394965.2:c.1395G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg465Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

3-52245374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245374
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245374
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1406C>T
  hgvsp: ENSP00000309259.2:p.Ala469Val
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1406C>T
  hgvsp: ENSP00000418779.1:p.Ala469Val
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.196C>T
  hgvsp: ENSP00000417352.1:p.Ala66Val
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1406C>T
  hgvsp: ENSP00000417719.1:p.Ala469Val
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1406C>T
  hgvsp: ENSP00000378416.2:p.Ala469Val
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala469Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-52245377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245377
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245377
    reference: chr 3
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1409G>A
  hgvsp: ENSP00000418779.1:p.Gly470Asp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1409G>A
  hgvsp: ENSP00000417719.1:p.Gly470Asp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1409G>A
  hgvsp: ENSP00000378416.2:p.Gly470Asp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1409G>A
  hgvsp: ENSP00000309259.2:p.Gly470Asp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.199G>A
  hgvsp: ENSP00000417352.1:p.Gly67Asp
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly470Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-52245391-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245391
    reference: chr 3
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1423A>C
  hgvsp: ENSP00000309259.2:p.Thr475Pro
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1423A>C
  hgvsp: ENSP00000378416.2:p.Thr475Pro
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1423A>C
  hgvsp: ENSP00000418779.1:p.Thr475Pro
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.213A>C
  hgvsp: ENSP00000417352.1:p.Thr72Pro
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1423A>C
  hgvsp: ENSP00000417719.1:p.Thr475Pro
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr475Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-52245399-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245399
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245399
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1431G>C
  hgvsp: ENST00000484952.1:c.1431G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1431G>C
  hgvsp: ENST00000310271.2:c.1431G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.221G>C
  hgvsp: ENST00000493402.1:c.221G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1431G>C
  hgvsp: ENST00000469224.1:c.1431G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1431G>C
  hgvsp: ENST00000394965.2:c.1431G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu477Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-52245399-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245399
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245399
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1431G>T
  hgvsp: ENST00000484952.1:c.1431G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.221G>T
  hgvsp: ENST00000493402.1:c.221G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1431G>T
  hgvsp: ENST00000394965.2:c.1431G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1431G>T
  hgvsp: ENST00000469224.1:c.1431G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1431G>T
  hgvsp: ENST00000310271.2:c.1431G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9889
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19957
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu477Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-52245403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245403
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245403
    reference: chr 3
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1435C>T
  hgvsp: ENSP00000309259.2:p.Pro479Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.225C>T
  hgvsp: ENSP00000417352.1:p.Pro76Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1435C>T
  hgvsp: ENSP00000418779.1:p.Pro479Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1435C>T
  hgvsp: ENSP00000417719.1:p.Pro479Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1435C>T
  hgvsp: ENSP00000378416.2:p.Pro479Ser
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19960
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro479Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-52245432-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245432
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245432
    reference: chr 3
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1464T>C
  hgvsp: ENST00000469224.1:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1464T>C
  hgvsp: ENST00000484952.1:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1464T>C
  hgvsp: ENST00000310271.2:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1464T>C
  hgvsp: ENST00000394965.2:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.254T>C
  hgvsp: ENST00000493402.1:c.254T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser488Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-52245436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245436
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245436
    reference: chr 3
allele count: 4
allele frequency: 3.298914657077821e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1468C>T
  hgvsp: ENSP00000418779.1:p.Arg490Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1468C>T
  hgvsp: ENSP00000309259.2:p.Arg490Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1468C>T
  hgvsp: ENSP00000378416.2:p.Arg490Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.258C>T
  hgvsp: ENSP00000417352.1:p.Arg87Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1468C>T
  hgvsp: ENSP00000417719.1:p.Arg490Trp
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg490Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-52245437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245437
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245437
    reference: chr 3
allele count: 24
allele frequency: 1.978565539983512e-4
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1469G>A
  hgvsp: ENSP00000309259.2:p.Arg490Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1469G>A
  hgvsp: ENSP00000378416.2:p.Arg490Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.259G>A
  hgvsp: ENSP00000417352.1:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1469G>A
  hgvsp: ENSP00000417719.1:p.Arg490Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1469G>A
  hgvsp: ENSP00000418779.1:p.Arg490Gln
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11515
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20085
  bin: 9.75e1
  variant carriers: 24
hgvs: p.Arg490Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-52245450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245450
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245450
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1482C>T
  hgvsp: ENST00000394965.2:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1482C>T
  hgvsp: ENST00000484952.1:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1482C>T
  hgvsp: ENST00000310271.2:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.272C>T
  hgvsp: ENST00000493402.1:c.272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1482C>T
  hgvsp: ENST00000469224.1:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser494Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

3-52245451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245451
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245451
    reference: chr 3
allele count: 3
allele frequency: 2.472310126582278e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1483G>A
  hgvsp: ENSP00000378416.2:p.Ala495Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.273G>A
  hgvsp: ENSP00000417352.1:p.Ala92Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1483G>A
  hgvsp: ENSP00000417719.1:p.Ala495Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1483G>A
  hgvsp: ENSP00000418779.1:p.Ala495Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1483G>A
  hgvsp: ENSP00000309259.2:p.Ala495Thr
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala495Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-52245460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245460
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245460
    reference: chr 3
allele count: 6
allele frequency: 4.943968358602505e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1492C>T
  hgvsp: ENSP00000309259.2:p.Arg498Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1492C>T
  hgvsp: ENSP00000378416.2:p.Arg498Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.282C>T
  hgvsp: ENSP00000417352.1:p.Arg95Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1492C>T
  hgvsp: ENSP00000418779.1:p.Arg498Trp
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1492C>T
  hgvsp: ENSP00000417719.1:p.Arg498Trp
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13749
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg498Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-52245470-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245470
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245470
    reference: chr 3
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.292G>T
  hgvsp: ENSP00000417352.1:p.Arg98Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.3G>T
  hgvsp: ENSP00000419423.1:p.Arg2Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1502G>T
  hgvsp: ENSP00000378416.2:p.Arg501Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1502G>T
  hgvsp: ENSP00000309259.2:p.Arg501Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1502G>T
  hgvsp: ENSP00000418779.1:p.Arg501Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1502G>T
  hgvsp: ENSP00000417719.1:p.Arg501Leu
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 2.25e1
  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: 13795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg501Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

3-52245472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245472
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245472
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1504C>T
  hgvsp: ENSP00000378416.2:p.Arg502Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1504C>T
  hgvsp: ENSP00000418779.1:p.Arg502Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.5C>T
  hgvsp: ENSP00000419423.1:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.294C>T
  hgvsp: ENSP00000417352.1:p.Arg99Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1504C>T
  hgvsp: ENSP00000417719.1:p.Arg502Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1504C>T
  hgvsp: ENSP00000309259.2:p.Arg502Cys
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg502Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-52245473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245473
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245473
    reference: chr 3
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1505G>A
  hgvsp: ENSP00000309259.2:p.Arg502His
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.295G>A
  hgvsp: ENSP00000417352.1:p.Arg99His
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1505G>A
  hgvsp: ENSP00000378416.2:p.Arg502His
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1505G>A
  hgvsp: ENSP00000418779.1:p.Arg502His
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.6G>A
  hgvsp: ENSP00000419423.1:p.Arg3His
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1505G>A
  hgvsp: ENSP00000417719.1:p.Arg502His
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 7.25e1
  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: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg502His
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-52245474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245474
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245474
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.7C>T
  hgvsp: ENST00000459884.1:c.7C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1506C>T
  hgvsp: ENST00000469224.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1506C>T
  hgvsp: ENST00000310271.2:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1506C>T
  hgvsp: ENST00000484952.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.296C>T
  hgvsp: ENST00000493402.1:c.296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1506C>T
  hgvsp: ENST00000394965.2:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg502Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

3-52245476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245476
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245476
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.9A>G
  hgvsp: ENSP00000419423.1:p.Gln4Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1508A>G
  hgvsp: ENSP00000418779.1:p.Gln503Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1508A>G
  hgvsp: ENSP00000378416.2:p.Gln503Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.298A>G
  hgvsp: ENSP00000417352.1:p.Gln100Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1508A>G
  hgvsp: ENSP00000417719.1:p.Gln503Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1508A>G
  hgvsp: ENSP00000309259.2:p.Gln503Arg
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln503Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-52245483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245483
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245483
    reference: chr 3
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1515G>A
  hgvsp: ENST00000484952.1:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.16G>A
  hgvsp: ENST00000459884.1:c.16G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.305G>A
  hgvsp: ENST00000493402.1:c.305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1515G>A
  hgvsp: ENST00000394965.2:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1515G>A
  hgvsp: ENST00000469224.1:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1515G>A
  hgvsp: ENST00000310271.2:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5060
  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
hgvs: p.Gln505Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

3-52245484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245484
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245484
    reference: chr 3
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1516C>T
  hgvsp: ENSP00000309259.2:p.Arg506Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.17C>T
  hgvsp: ENSP00000419423.1:p.Arg7Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.306C>T
  hgvsp: ENSP00000417352.1:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1516C>T
  hgvsp: ENSP00000417719.1:p.Arg506Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1516C>T
  hgvsp: ENSP00000378416.2:p.Arg506Cys
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1516C>T
  hgvsp: ENSP00000418779.1:p.Arg506Cys
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4744
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg506Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

3-52245485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245485
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245485
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1517G>A
  hgvsp: ENSP00000309259.2:p.Arg506His
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1517G>A
  hgvsp: ENSP00000417719.1:p.Arg506His
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.18G>A
  hgvsp: ENSP00000419423.1:p.Arg7His
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1517G>A
  hgvsp: ENSP00000418779.1:p.Arg506His
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1517G>A
  hgvsp: ENSP00000378416.2:p.Arg506His
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.307G>A
  hgvsp: ENSP00000417352.1:p.Arg103His
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  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: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5935
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg506His
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

3-52245489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245489
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245489
    reference: chr 3
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.311C>T
  hgvsp: ENST00000493402.1:c.311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.22C>T
  hgvsp: ENST00000459884.1:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1521C>T
  hgvsp: ENST00000394965.2:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1521C>T
  hgvsp: ENST00000484952.1:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1521C>T
  hgvsp: ENST00000469224.1:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1521C>T
  hgvsp: ENST00000310271.2:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20175
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn507Asn
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-52245490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245490
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245490
    reference: chr 3
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1522G>A
  hgvsp: ENSP00000309259.2:p.Val508Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.312G>A
  hgvsp: ENSP00000417352.1:p.Val105Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1522G>A
  hgvsp: ENSP00000417719.1:p.Val508Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.23G>A
  hgvsp: ENSP00000419423.1:p.Val9Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1522G>A
  hgvsp: ENSP00000378416.2:p.Val508Ile
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1522G>A
  hgvsp: ENSP00000418779.1:p.Val508Ile
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20177
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val508Ile
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

3-52245494-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245494
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245494
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1526A>G
  hgvsp: ENSP00000378416.2:p.Lys509Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.27A>G
  hgvsp: ENSP00000419423.1:p.Lys10Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1526A>G
  hgvsp: ENSP00000418779.1:p.Lys509Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1526A>G
  hgvsp: ENSP00000309259.2:p.Lys509Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.316A>G
  hgvsp: ENSP00000417352.1:p.Lys106Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1526A>G
  hgvsp: ENSP00000417719.1:p.Lys509Arg
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys509Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/3-52245495-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245495
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245495
    reference: chr 3
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1527A>C
  hgvsp: ENSP00000418779.1:p.Lys509Asn
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1527A>C
  hgvsp: ENSP00000309259.2:p.Lys509Asn
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1527A>C
  hgvsp: ENSP00000378416.2:p.Lys509Asn
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1527A>C
  hgvsp: ENSP00000417719.1:p.Lys509Asn
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.28A>C
  hgvsp: ENSP00000419423.1:p.Lys10Asn
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.317A>C
  hgvsp: ENSP00000417352.1:p.Lys106Asn
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys509Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

3-52245496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245496
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245496
    reference: chr 3
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.318C>T
  hgvsp: ENSP00000417352.1:p.Leu107Phe
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1528C>T
  hgvsp: ENSP00000309259.2:p.Leu510Phe
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1528C>T
  hgvsp: ENSP00000378416.2:p.Leu510Phe
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1528C>T
  hgvsp: ENSP00000418779.1:p.Leu510Phe
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1528C>T
  hgvsp: ENSP00000417719.1:p.Leu510Phe
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.29C>T
  hgvsp: ENSP00000419423.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu510Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

3-52245500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245500
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245500
    reference: chr 3
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.322T>C
  hgvsp: ENSP00000417352.1:p.Met108Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1532T>C
  hgvsp: ENSP00000418779.1:p.Met511Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1532T>C
  hgvsp: ENSP00000378416.2:p.Met511Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.33T>C
  hgvsp: ENSP00000419423.1:p.Met12Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1532T>C
  hgvsp: ENSP00000309259.2:p.Met511Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1532T>C
  hgvsp: ENSP00000417719.1:p.Met511Thr
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5071
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met511Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-52245515-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245515
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245515
    reference: chr 3
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.48T>C
  hgvsp: ENSP00000419423.1:p.Met17Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.337T>C
  hgvsp: ENSP00000417352.1:p.Met113Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1547T>C
  hgvsp: ENSP00000309259.2:p.Met516Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1547T>C
  hgvsp: ENSP00000417719.1:p.Met516Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1547T>C
  hgvsp: ENSP00000418779.1:p.Met516Thr
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1547T>C
  hgvsp: ENSP00000378416.2:p.Met516Thr
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  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: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met516Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

3-52245521-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245521
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245521
    reference: chr 3
allele count: 38
allele frequency: 3.145539128851216e-4
allele num: 120806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1553C>G
  hgvsp: ENSP00000309259.2:p.Ala518Gly
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.343C>G
  hgvsp: ENSP00000417352.1:p.Ala115Gly
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1553C>G
  hgvsp: ENSP00000378416.2:p.Ala518Gly
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1553C>G
  hgvsp: ENSP00000418779.1:p.Ala518Gly
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.54C>G
  hgvsp: ENSP00000419423.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1553C>G
  hgvsp: ENSP00000417719.1:p.Ala518Gly
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11662
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5006
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala518Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

3-52245522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245522
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245522
    reference: chr 3
allele count: 139
allele frequency: 1.145390421569597e-3
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1554C>T
  hgvsp: ENST00000310271.2:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1554C>T
  hgvsp: ENST00000484952.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.344C>T
  hgvsp: ENST00000493402.1:c.344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1554C>T
  hgvsp: ENST00000469224.1:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.55C>T
  hgvsp: ENST00000459884.1:c.55C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1554C>T
  hgvsp: ENST00000394965.2:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10767
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20214
  bin: 9.75e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13483
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala518Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-52245523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245523
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245523
    reference: chr 3
allele count: 5
allele frequency: 4.12044896411913e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1555G>A
  hgvsp: ENSP00000418779.1:p.Gly519Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1555G>A
  hgvsp: ENSP00000309259.2:p.Gly519Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1555G>A
  hgvsp: ENSP00000378416.2:p.Gly519Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.345G>A
  hgvsp: ENSP00000417352.1:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1555G>A
  hgvsp: ENSP00000417719.1:p.Gly519Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.56G>A
  hgvsp: ENSP00000419423.1:p.Gly20Ser
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly519Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

3-52245537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245537
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245537
    reference: chr 3
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1569C>T
  hgvsp: ENST00000394965.2:c.1569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.70C>T
  hgvsp: ENST00000459884.1:c.70C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1569C>T
  hgvsp: ENST00000310271.2:c.1569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1569C>T
  hgvsp: ENST00000469224.1:c.1569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1569C>T
  hgvsp: ENST00000484952.1:c.1569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.359C>T
  hgvsp: ENST00000493402.1:c.359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val523Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

3-52245539-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245539
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245539
    reference: chr 3
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.361A>G
  hgvsp: ENSP00000417352.1:p.His121Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1571A>G
  hgvsp: ENSP00000378416.2:p.His524Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1571A>G
  hgvsp: ENSP00000418779.1:p.His524Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.72A>G
  hgvsp: ENSP00000419423.1:p.His25Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1571A>G
  hgvsp: ENSP00000417719.1:p.His524Arg
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1571A>G
  hgvsp: ENSP00000309259.2:p.His524Arg
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His524Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

3-52245542-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245542
    reference: chr 3
allele count: 5
allele frequency: 4.188306248952924e-5
allele num: 119380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1574G>C
  hgvsp: ENSP00000378416.2:p.Cys525Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1574G>C
  hgvsp: ENSP00000418779.1:p.Cys525Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1574G>C
  hgvsp: ENSP00000309259.2:p.Cys525Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1574G>C
  hgvsp: ENSP00000417719.1:p.Cys525Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.364G>C
  hgvsp: ENSP00000417352.1:p.Cys122Ser
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.75G>C
  hgvsp: ENSP00000419423.1:p.Cys26Ser
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys525Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-52245544-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245544
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245544
    reference: chr 3
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1576C>G
  hgvsp: ENSP00000418779.1:p.Pro526Ala
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.366C>G
  hgvsp: ENSP00000417352.1:p.Pro123Ala
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1576C>G
  hgvsp: ENSP00000309259.2:p.Pro526Ala
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1576C>G
  hgvsp: ENSP00000378416.2:p.Pro526Ala
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.77C>G
  hgvsp: ENSP00000419423.1:p.Pro27Ala
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1576C>G
  hgvsp: ENSP00000417719.1:p.Pro526Ala
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro526Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-52245552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245552
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245552
    reference: chr 3
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1584C>T
  hgvsp: ENST00000484952.1:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.85C>T
  hgvsp: ENST00000459884.1:c.85C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1584C>T
  hgvsp: ENST00000394965.2:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1584C>T
  hgvsp: ENST00000469224.1:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1584C>T
  hgvsp: ENST00000310271.2:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.374C>T
  hgvsp: ENST00000493402.1:c.374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His528His
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

3-52245562-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245562
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245562
    reference: chr 3
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1594G>C
  hgvsp: ENSP00000378416.2:p.Val532Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.95G>C
  hgvsp: ENSP00000419423.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1594G>C
  hgvsp: ENSP00000418779.1:p.Val532Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1594G>C
  hgvsp: ENSP00000309259.2:p.Val532Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.384G>C
  hgvsp: ENSP00000417352.1:p.Val129Leu
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1594G>C
  hgvsp: ENSP00000417719.1:p.Val532Leu
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val532Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-52245566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245566
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245566
    reference: chr 3
allele count: 9
allele frequency: 7.433961640757934e-5
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.99G>A
  hgvsp: ENSP00000419423.1:p.Arg34Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.388G>A
  hgvsp: ENSP00000417352.1:p.Arg130Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1598G>A
  hgvsp: ENSP00000418779.1:p.Arg533Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1598G>A
  hgvsp: ENSP00000378416.2:p.Arg533Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1598G>A
  hgvsp: ENSP00000309259.2:p.Arg533Gln
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1598G>A
  hgvsp: ENSP00000417719.1:p.Arg533Gln
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21094
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg533Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-52245572-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245572
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245572
    reference: chr 3
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.100+5T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1599+5T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1599+5T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.389+5T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1599+5T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1599+5T>C
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21096
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12450
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1599+5T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-52245577-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245577
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245577
    reference: chr 3
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.100+10T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1599+10T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1599+10T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.389+10T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1599+10T>C
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1599+10T>C
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-52245578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245578
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245578
    reference: chr 3
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1599+11G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1599+11G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.389+11G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1599+11G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1599+11G>A
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.100+11G>A
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-52245580-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245580
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245580
    reference: chr 3
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1599+13C>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1599+13C>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1599+13C>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.389+13C>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.100+13C>G
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1599+13C>G
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-52245593-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245593
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245594
    reference: chr 3
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000418779
  ensembl transcript: ENST00000484952
  gene symbol: ALAS1
  hgvsc: ENST00000484952.1:c.1599+27dupG
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417719
  ensembl transcript: ENST00000469224
  gene symbol: ALAS1
  hgvsc: ENST00000469224.1:c.1599+27dupG
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000419423
  ensembl transcript: ENST00000459884
  gene symbol: ALAS1
  hgvsc: ENST00000459884.1:c.100+27dupG
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000417352
  ensembl transcript: ENST00000493402
  gene symbol: ALAS1
  hgvsc: ENST00000493402.1:c.389+27dupG
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000309259
  ensembl transcript: ENST00000310271
  gene symbol: ALAS1
  hgvsc: ENST00000310271.2:c.1599+27dupG
  variant of: http://identifiers.org/hgnc/396
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000023330
  ensembl protein: ENSP00000378416
  ensembl transcript: ENST00000394965
  gene symbol: ALAS1
  hgvsc: ENST00000394965.2:c.1599+27dupG
  variant of: http://identifiers.org/hgnc/396
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21098
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9798
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-52245594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52245594
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52245594
    reference: chr 3
allele count: 1
allele frequency: 8.34125752798492e-6
allele num: 119886
alternate allele: A
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 4693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
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: 1.502178158329578e-5
allele num: 66570
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: 10404
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: 16306
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.126e1

DP
type: SiteQuality
SIO_000300: 1.965025e6

MQ
type: SiteQuality
SIO_000300: 5.291e1

MQRankSum
type: SiteQuality
SIO_000300: -8.048e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

FS
type: SiteQuality
SIO_000300: 5.497e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.209e0

VQSLOD
type: SiteQuality
SIO_000300: -8.217000000000001e0

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

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

GenotypeQuality
all individuals: 1511
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9049
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.518e0

VQSLOD
type: SiteQuality
SIO_000300: -5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 9.903e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.282e0

DP
type: SiteQuality
SIO_000300: 1.965459e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.557e0

QD
type: SiteQuality
SIO_000300: 8.02e0

MQ
type: SiteQuality
SIO_000300: 5.307e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 10
allele frequency: 8.638562543192813e-4
allele num: 11576
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: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.118453255017132e-5
allele num: 16344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.012256669069935e-5
allele num: 66576
num of homozygotes: 0

African
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allele count: 64
allele frequency: 6.150297905054776e-3
allele num: 10406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.119e0

QD
type: SiteQuality
SIO_000300: 1.248e1

DP
type: SiteQuality
SIO_000300: 1.968981e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28527
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GenotypeQuality
all individuals: 3394
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.962992e6

QD
type: SiteQuality
SIO_000300: 1.496e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
SIO_000300: 2.713e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.18e-1

GenotypeQuality
all individuals: 2120
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3394
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variant carriers: 0

GenotypeQuality
all individuals: 4693
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 66642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

FS
type: SiteQuality
SIO_000300: 5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.278e1

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 1.964711e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7648
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variant carriers: 1

GenotypeQuality
all individuals: 7
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
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: 8654
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -6.589e-1

FS
type: SiteQuality
SIO_000300: 9.305e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.478e1

DP
type: SiteQuality
SIO_000300: 1.964657e6

GenotypeQuality
all individuals: 10
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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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GenotypeQuality
all individuals: 2120
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 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: 908
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: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.136e0

DP
type: SiteQuality
SIO_000300: 1.964812e6

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.207e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28733
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variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 8.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.136e0

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 1.964812e6

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 9091
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
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: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.921e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.202e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.142e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.964703e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

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

DP
type: SiteQuality
SIO_000300: 1.96465e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1502
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8652
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.145526057030482e-5
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

VQSLOD
type: SiteQuality
SIO_000300: -5.513e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.945874e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.462e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.513683700653911e-5
allele num: 66064
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.770738e6

VQSLOD
type: SiteQuality
SIO_000300: -5.916e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

GenotypeQuality
all individuals: 2873
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515289268721399e-5
allele num: 65994
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

DP
type: SiteQuality
SIO_000300: 1.764589e6

QD
type: SiteQuality
SIO_000300: 1.56e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.399e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeQuality
all individuals: 19967
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 4479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4705
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2897
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.418014205833459e-4
allele num: 66170
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 12
allele frequency: 7.720020586721565e-4
allele num: 15544
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.485e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

DP
type: SiteQuality
SIO_000300: 2.1453e6

FS
type: SiteQuality
SIO_000300: 2.124e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.66e0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

GenotypeQuality
all individuals: 314
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19966
bin: 9.75e1
variant carriers: 1

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: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15886
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.491e0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.087e0

DP
type: SiteQuality
SIO_000300: 2.179363e6

QD
type: SiteQuality
SIO_000300: 1.868e1

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2930
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19980
bin: 9.75e1
variant carriers: 14

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.109895409470416e-4
allele num: 66354
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.681e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

FS
type: SiteQuality
SIO_000300: 5.783e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

QD
type: SiteQuality
SIO_000300: 1.532e1

DP
type: SiteQuality
SIO_000300: 2.182297e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 2932
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.653389448369157e-4
allele num: 66530
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 16314
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

DP
type: SiteQuality
SIO_000300: 2.195921e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.106e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2934
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 3973
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variant carriers: 0

GenotypeQuality
all individuals: 4526
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.565e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.544e0

QD
type: SiteQuality
SIO_000300: 1.062e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 2.196364e6

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
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GenotypeQuality
all individuals: 5964
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.916e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.05e-1

DP
type: SiteQuality
SIO_000300: 2.203252e6

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.584e0

QD
type: SiteQuality
SIO_000300: 1.761e1

VQSLOD
type: SiteQuality
SIO_000300: -9.752999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
all individuals: 14679
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 19971
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variant carriers: 1

GenotypeQuality
all individuals: 4534
bin: 8.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.679e0

VQSLOD
type: SiteQuality
SIO_000300: -3.854e-1

QD
type: SiteQuality
SIO_000300: 1.758e1

FS
type: SiteQuality
SIO_000300: 9.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.269e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.422e0

DP
type: SiteQuality
SIO_000300: 2.203402e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
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: 16504
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: 10388
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.313e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

DP
type: SiteQuality
SIO_000300: 2.204203e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e0

GenotypeQuality
all individuals: 3627
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

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

GenotypeQuality
all individuals: 2940
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variant carriers: 0

GenotypeQuality
all individuals: 5967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14652
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.204104e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.369e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 7.25e1
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: 16504
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 2.204104e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4790
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 19971
bin: 9.75e1
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GenotypeQuality
all individuals: 14688
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

Latino
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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DP
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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Other
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South Asian
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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QD
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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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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African
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European (Non-Finnish)
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South Asian
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Other
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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DP
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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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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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African
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Latino
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DP
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VQSLOD
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MQ
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FS
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Finnish)
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.49667246237784e-5
allele num: 66716
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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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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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

Other
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South Asian
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East Asian
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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QD
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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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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European (Non-Finnish)
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allele num: 66716
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Other
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Latino
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East Asian
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European (Finnish)
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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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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European (Finnish)
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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Other
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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QD
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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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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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FS
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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South Asian
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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QD
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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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European (Finnish)
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East Asian
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allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

DP
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VQSLOD
type: SiteQuality
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FS
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-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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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
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Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

Latino
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 3.000390050706592e-5
allele num: 66658
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South Asian
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allele frequency: 1.21256214380987e-4
allele num: 16494
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Latino
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Other
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DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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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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East Asian
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allele frequency: 1.040221914008322e-3
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.999340072592015e-5
allele num: 66674
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African
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Latino
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allele frequency: 6.920415224913495e-4
allele num: 11560
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South Asian
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allele frequency: 1.817741153659719e-4
allele num: 16504
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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MQ
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
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Other
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allele count: 0
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African
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allele frequency: 0.0e0
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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

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-1

InbreedingCoeff
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MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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SIO_000300: 2.211159e6

BaseQRankSum
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MQ
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VQSLOD
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SIO_000300: 5.07e-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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variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
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: 66698
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Other
type: Population
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East Asian
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African
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allele num: 10400
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South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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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: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele count: 6
allele frequency: 8.993614533681087e-5
allele num: 66714
num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
allele num: 10400
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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ClippingRankSum
type: SiteQuality
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FS
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

South Asian
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Other
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Latino
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Other
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
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African
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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num of homozygotes: 0

Latino
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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DP
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 9.15e-1

ClippingRankSum
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SIO_000300: -2.06e0

BaseQRankSum
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SIO_000300: -5.929e0

VQSLOD
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MQ
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SIO_000300: 5.953e1

MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 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 frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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DP
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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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GenotypeQuality
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variant carriers: 3

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQRankSum
type: SiteQuality
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QD
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MQ
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SIO_000300: 5.963e1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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VQSLOD
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BaseQRankSum
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SIO_000300: -3.538e0

DP
type: SiteQuality
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ClippingRankSum
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SIO_000300: -3.99e-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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.615384615384615e-5
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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

Latino
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allele count: 0
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Other
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BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

East Asian
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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: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
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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allele count: 0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

ClippingRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.343e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.244e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.937e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.43e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.309e1

BaseQRankSum
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SIO_000300: -2.285e0

MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
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ReadPosRankSum
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SIO_000300: 1.15e0

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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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

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

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

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

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

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

MQRankSum
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QD
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ClippingRankSum
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

South Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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African
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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DP
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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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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele num: 66726
num of homozygotes: 0

East Asian
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European (Finnish)
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num of homozygotes: 0

African
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Other
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Latino
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South Asian
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
all individuals: 3054
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

DP
type: SiteQuality
SIO_000300: 2.218985e6

VQSLOD
type: SiteQuality
SIO_000300: -1.155e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 1.0556e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.236e1

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

GenotypeQuality
all individuals: 5900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5064
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4059
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13712
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20179
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3739
bin: 7.25e1
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: 8652
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: 908
num of homozygotes: 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: 10400
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

FS
type: SiteQuality
SIO_000300: 2.569e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 8.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.217918e6

QD
type: SiteQuality
SIO_000300: 1.211e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 13377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4024
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5789
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3038
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 19976
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.368785778849051e-4
allele num: 66380
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.846839860411012e-4
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.598405885959534e-4
allele num: 6524
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.095e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 4.134e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 2.228273e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.781e0

VQSLOD
type: SiteQuality
SIO_000300: -1.107e1

MQ
type: SiteQuality
SIO_000300: 5.93e1

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

GenotypeQuality
all individuals: 5037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3061
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4046
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 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: 99
allele frequency: 9.521061742642816e-3
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

East Asian
type: Population
allele count: 35
allele frequency: 4.045307443365695e-3
allele num: 8652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

FS
type: SiteQuality
SIO_000300: 1.155e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.220862e6

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 5872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20182
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998080614203455e-5
allele num: 66688
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.308e1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

FS
type: SiteQuality
SIO_000300: 4.893e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.216722e6

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5026
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4728
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.896e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.022e0

FS
type: SiteQuality
SIO_000300: 2.702e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e0

DP
type: SiteQuality
SIO_000300: 2.212044e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

QD
type: SiteQuality
SIO_000300: 5.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4722
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4043
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3055
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5010
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variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
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: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
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: 16502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.733e0

DP
type: SiteQuality
SIO_000300: 2.212501e6

VQSLOD
type: SiteQuality
SIO_000300: -2.154e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

QD
type: SiteQuality
SIO_000300: 3.009e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 2.249e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4913
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19786
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5566
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.865824782951855e-5
allele num: 10136
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.576659038901602e-5
allele num: 65550
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.157407407407407e-3
allele num: 864
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.623e0

MQRankSum
type: SiteQuality
SIO_000300: 7.53e-1

DP
type: SiteQuality
SIO_000300: 2.226192e6

FS
type: SiteQuality
SIO_000300: 2.5086e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e0

VQSLOD
type: SiteQuality
SIO_000300: -2.938e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.451e0

QD
type: SiteQuality
SIO_000300: 9.3e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
all individuals: 21097
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3048
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 4692
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variant carriers: 0

GenotypeQuality
all individuals: 4996
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.755e0

DP
type: SiteQuality
SIO_000300: 2.264821e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: -3.511e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.131e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.015e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 3.9e0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4989
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3645
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GenotypeQuality
all individuals: 13148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5705
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21095
bin: 9.75e1
variant carriers: 1

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: 10396
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.26458e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.288e0

GenotypeQuality
all individuals: 12955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 4041
bin: 9.25e1
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GenotypeQuality
all individuals: 21092
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GenotypeQuality
all individuals: 3636
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GenotypeQuality
all individuals: 3049
bin: 8.75e1
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GenotypeQuality
all individuals: 5687
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
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: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.121e1

FS
type: SiteQuality
SIO_000300: 1.666e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 2.261917e6

GenotypeQuality
all individuals: 5662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3633
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3049
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4973
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 9
allele frequency: 7.77336327517706e-4
allele num: 11578
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

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: 66604
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: 16318
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

DP
type: SiteQuality
SIO_000300: 2.260847e6

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4678
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5637
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
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: 8652
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: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.684e1

VQSLOD
type: SiteQuality
SIO_000300: -2.767e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 2.256194e6

FS
type: SiteQuality
SIO_000300: 3.296e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4960
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21097
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5566
bin: 6.75e1
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: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.250066e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.769e0

FS
type: SiteQuality
SIO_000300: 1.2286e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
all individuals: 4676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4038
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21098
bin: 9.75e1
variant carriers: 1

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: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 4.932e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.842e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

DP
type: SiteQuality
SIO_000300: 2.2501e6

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

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

GenotypeQuality
all individuals: 21099
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11803
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4959
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.018e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.187e1

FS
type: SiteQuality
SIO_000300: 3.784e0

DP
type: SiteQuality
SIO_000300: 2.249175e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 636
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4947
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4039
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3043
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
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: 2.226993e6

FS
type: SiteQuality
SIO_000300: 1.192e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-1

MQ
type: SiteQuality
SIO_000300: 6.001e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 8.19e0