1-18962903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18962903
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 18962903
    reference: chr 1
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.580+38G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.586+38G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.586+38G>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

1-18962907-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18962907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 18962907
    reference: chr 1
allele count: 2
allele frequency: 1.663865825859803e-5
allele num: 120202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.580+42T>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.586+42T>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.586+42T>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46857
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-18962915-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18962915
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 18962915
    reference: chr 1
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.586+50T>G
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.586+50T>G
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.580+50T>G
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 962
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1200
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1152
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 153
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

1-18962917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18962917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 18962917
    reference: chr 1
allele count: 1
allele frequency: 8.3558942478024e-6
allele num: 119676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.580+52C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.586+52C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.586+52C>T
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46847
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

1-19018221-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018221
    reference: chr 1
allele count: 1
allele frequency: 5.515111405250386e-5
allele num: 18132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.587-27T>C
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.587-27T>C
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.581-27T>C
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-19018226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018226
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018226
    reference: chr 1
allele count: 1
allele frequency: 5.443065534509035e-5
allele num: 18372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.587-22C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.587-22C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.581-22C>T
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-19018236-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018236
    reference: chr 1
allele count: 2
allele frequency: 1.016363451570281e-4
allele num: 19678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.581-12C>G
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.587-12C>G
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.587-12C>G
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-19018239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018239
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018239
    reference: chr 1
allele count: 1
allele frequency: 4.974629390110437e-5
allele num: 20102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.581-9C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.587-9C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.587-9C>T
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

1-19018240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018240
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 20492
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.587-8G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.581-8G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.587-8G>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24782
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24306
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22108
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23354
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.75e1
  variant carriers: 0
hgvs: c.587-8G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-19018244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018244
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018244
    reference: chr 1
allele count: 2
allele frequency: 9.337940050424876e-5
allele num: 21418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.581-4G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.587-4G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.587-4G>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.25e1
  variant carriers: 0
hgvs: c.587-4G>A
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-19018249-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018249
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018249
    reference: chr 1
allele count: 6
allele frequency: 2.642240620045799e-4
allele num: 22708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.582G>A
  hgvsp: ENST00000400661.3:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.588G>A
  hgvsp: ENST00000375375.3:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.588G>A
  hgvsp: ENST00000420770.2:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18043
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30165
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17641
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3272
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
hgvs: c.588G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

1-19018253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018253
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 23630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.592C>T
  hgvsp: ENSP00000403389.2:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.586C>T
  hgvsp: ENSP00000383502.3:p.Arg196Trp
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.592C>T
  hgvsp: ENSP00000364524.3:p.Arg198Trp
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31412
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27555
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6106
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg198Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-19018254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018254
    reference: chr 1
allele count: 2
allele frequency: 8.145975887911372e-5
allele num: 24552
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.593G>A
  hgvsp: ENSP00000364524.3:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.587G>A
  hgvsp: ENSP00000383502.3:p.Arg196Gln
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.593G>A
  hgvsp: ENSP00000403389.2:p.Arg198Gln
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg198Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

1-19018261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018261
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018261
    reference: chr 1
allele count: 2
allele frequency: 7.34807847747814e-5
allele num: 27218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.600C>T
  hgvsp: ENST00000375375.3:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.600C>T
  hgvsp: ENST00000420770.2:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.594C>T
  hgvsp: ENST00000400661.3:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp200Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-19018263-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018263
    reference: chr 1
allele count: 17
allele frequency: 5.876253024541997e-4
allele num: 28930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.602A>G
  hgvsp: ENSP00000403389.2:p.Glu201Gly
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.602A>G
  hgvsp: ENSP00000364524.3:p.Glu201Gly
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.596A>G
  hgvsp: ENSP00000383502.3:p.Glu199Gly
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35323
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.75e1
  variant carriers: 17
hgvs: p.Glu201Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-19018269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018269
    reference: chr 1
allele count: 2
allele frequency: 6.103888176768602e-5
allele num: 32766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.608C>T
  hgvsp: ENSP00000403389.2:p.Ser203Leu
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.602C>T
  hgvsp: ENSP00000383502.3:p.Ser201Leu
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.608C>T
  hgvsp: ENSP00000364524.3:p.Ser203Leu
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35921
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 34255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser203Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-19018270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018270
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018270
    reference: chr 1
allele count: 409
allele frequency: 1.19228078358209e-2
allele num: 34304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.609G>A
  hgvsp: ENST00000420770.2:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.603G>A
  hgvsp: ENST00000400661.3:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.609G>A
  hgvsp: ENST00000375375.3:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 1.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35912
  bin: 7.5e0
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 6860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 34419
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.75e1
  variant carriers: 393
genotype quality: GenotypeQuality
  all individuals: 8207
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 7
hgvs: p.Ser203Ser
num of homozygotes: 8
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-19018275-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018275
    reference: chr 1
allele count: 1
allele frequency: 2.595514950166113e-5
allele num: 38528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.614T>C
  hgvsp: ENSP00000403389.2:p.Val205Ala
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.614T>C
  hgvsp: ENSP00000364524.3:p.Val205Ala
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.608T>C
  hgvsp: ENSP00000383502.3:p.Val203Ala
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val205Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-19018279-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018279
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018279
    reference: chr 1
allele count: 1
allele frequency: 2.403730589875487e-5
allele num: 41602
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.618G>T
  hgvsp: ENSP00000364524.3:p.Glu206Asp
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.618G>T
  hgvsp: ENSP00000403389.2:p.Glu206Asp
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.612G>T
  hgvsp: ENSP00000383502.3:p.Glu204Asp
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu206Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-19018281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018281
    reference: chr 1
allele count: 6
allele frequency: 1.383763837638376e-4
allele num: 43360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.614C>T
  hgvsp: ENSP00000383502.3:p.Ser205Leu
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.620C>T
  hgvsp: ENSP00000403389.2:p.Ser207Leu
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.620C>T
  hgvsp: ENSP00000364524.3:p.Ser207Leu
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 33480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10985
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3963
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genotype quality: GenotypeQuality
  all individuals: 311
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Ser207Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

1-19018282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018282
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018282
    reference: chr 1
allele count: 5
allele frequency: 1.097357562988324e-4
allele num: 45564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.615G>A
  hgvsp: ENST00000400661.3:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.621G>A
  hgvsp: ENST00000375375.3:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.621G>A
  hgvsp: ENST00000420770.2:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33748
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6339
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser207Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

1-19018298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018298
    reference: chr 1
allele count: 1
allele frequency: 1.587906504065041e-5
allele num: 62976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.631C>T
  hgvsp: ENST00000400661.3:c.631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.637C>T
  hgvsp: ENST00000420770.2:c.637C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.637C>T
  hgvsp: ENST00000375375.3:c.637C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu213Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

1-19018300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018300
    reference: chr 1
allele count: 7
allele frequency: 1.070270931441502e-4
allele num: 65404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.639G>A
  hgvsp: ENST00000420770.2:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.639G>A
  hgvsp: ENST00000375375.3:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.633G>A
  hgvsp: ENST00000400661.3:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19026
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26294
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu213Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-19018304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018304
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018304
    reference: chr 1
allele count: 1
allele frequency: 1.453741931732279e-5
allele num: 68788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.643C>T
  hgvsp: ENSP00000403389.2:p.Arg215Cys
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.637C>T
  hgvsp: ENSP00000383502.3:p.Arg213Cys
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.643C>T
  hgvsp: ENSP00000364524.3:p.Arg215Cys
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg215Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-19018305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018305
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018305
    reference: chr 1
allele count: 55
allele frequency: 7.718214987370194e-4
allele num: 71260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.644G>A
  hgvsp: ENSP00000403389.2:p.Arg215His
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.638G>A
  hgvsp: ENSP00000383502.3:p.Arg213His
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.644G>A
  hgvsp: ENSP00000364524.3:p.Arg215His
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21426
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 433
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 561
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  variant carriers: 50
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg215His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-19018307-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018307
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018307
    reference: chr 1
allele count: 1
allele frequency: 1.320724813777801e-5
allele num: 75716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.640A>G
  hgvsp: ENSP00000383502.3:p.Lys214Glu
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.646A>G
  hgvsp: ENSP00000403389.2:p.Lys216Glu
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.646A>G
  hgvsp: ENSP00000364524.3:p.Lys216Glu
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys216Glu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

1-19018314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018314
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018314
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 84464
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.653G>A
  hgvsp: ENSP00000364524.3:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.653G>A
  hgvsp: ENSP00000403389.2:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.647G>A
  hgvsp: ENSP00000383502.3:p.Arg216Gln
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 17504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg218Gln
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-19018315-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018315
    reference: chr 1
allele count: 588
allele frequency: 6.82799944261229e-3
allele num: 86116
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.654A>C
  hgvsp: ENST00000375375.3:c.654A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.648A>C
  hgvsp: ENST00000400661.3:c.648A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.654A>C
  hgvsp: ENST00000420770.2:c.654A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 1.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 16829
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 27958
  bin: 2.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 1.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17399
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 30175
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 9.75e1
  variant carriers: 558
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Arg218Arg
num of homozygotes: 12
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-19018317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018317
    reference: chr 1
allele count: 1
allele frequency: 1.120297551029554e-5
allele num: 89262
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.656G>A
  hgvsp: ENSP00000364524.3:p.Arg219His
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.656G>A
  hgvsp: ENSP00000403389.2:p.Arg219His
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.650G>A
  hgvsp: ENSP00000383502.3:p.Arg217His
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg219His
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

1-19018320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018320
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018320
    reference: chr 1
allele count: 1
allele frequency: 1.067372555716847e-5
allele num: 93688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.653G>A
  hgvsp: ENSP00000383502.3:p.Ser218Asn
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.659G>A
  hgvsp: ENSP00000364524.3:p.Ser220Asn
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.659G>A
  hgvsp: ENSP00000403389.2:p.Ser220Asn
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser220Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-19018330-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018330
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018330
    reference: chr 1
allele count: 36
allele frequency: 3.463936571472558e-4
allele num: 103928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.669A>G
  hgvsp: ENST00000420770.2:c.669A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.669A>G
  hgvsp: ENST00000375375.3:c.669A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.663A>G
  hgvsp: ENST00000400661.3:c.663A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36985
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr223Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

1-19018333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018333
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018333
    reference: chr 1
allele count: 1
allele frequency: 9.527802126605435e-6
allele num: 104956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.672C>T
  hgvsp: ENST00000420770.2:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.666C>T
  hgvsp: ENST00000400661.3:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.672C>T
  hgvsp: ENST00000375375.3:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe224Phe
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

1-19018335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018335
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018335
    reference: chr 1
allele count: 2
allele frequency: 1.888681133964153e-5
allele num: 105894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.668C>T
  hgvsp: ENSP00000383502.3:p.Thr223Met
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.674C>T
  hgvsp: ENSP00000364524.3:p.Thr225Met
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.674C>T
  hgvsp: ENSP00000403389.2:p.Thr225Met
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37585
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr225Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

1-19018336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018336
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018336
    reference: chr 1
allele count: 2
allele frequency: 1.871958068139274e-5
allele num: 106840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.669G>A
  hgvsp: ENST00000400661.3:c.669G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.675G>A
  hgvsp: ENST00000375375.3:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.675G>A
  hgvsp: ENST00000420770.2:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr225Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-19018336-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018336
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018336
    reference: chr 1
allele count: 2
allele frequency: 1.871958068139274e-5
allele num: 106840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.675G>C
  hgvsp: ENST00000420770.2:c.675G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.675G>C
  hgvsp: ENST00000375375.3:c.675G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.669G>C
  hgvsp: ENST00000400661.3:c.669G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37984
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr225Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-19018337-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018337
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018337
    reference: chr 1
allele count: 1
allele frequency: 9.318101343670214e-6
allele num: 107318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.670G>T
  hgvsp: ENSP00000383502.3:p.Ala224Ser
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.676G>T
  hgvsp: ENSP00000364524.3:p.Ala226Ser
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.676G>T
  hgvsp: ENSP00000403389.2:p.Ala226Ser
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38045
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala226Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

1-19018339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018339
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018339
    reference: chr 1
allele count: 2
allele frequency: 1.8432500184325e-5
allele num: 108504
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.678C>T
  hgvsp: ENST00000375375.3:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.672C>T
  hgvsp: ENST00000400661.3:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.678C>T
  hgvsp: ENST00000420770.2:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala226Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

1-19018340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018340
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018340
    reference: chr 1
allele count: 3
allele frequency: 2.750577621300473e-5
allele num: 109068
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.679G>A
  hgvsp: ENSP00000364524.3:p.Glu227Lys
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.673G>A
  hgvsp: ENSP00000383502.3:p.Glu225Lys
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.679G>A
  hgvsp: ENSP00000403389.2:p.Glu227Lys
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38475
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu227Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

1-19018360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018360
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018360
    reference: chr 1
allele count: 1
allele frequency: 8.772391529378739e-6
allele num: 113994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.699G>A
  hgvsp: ENST00000420770.2:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.699G>A
  hgvsp: ENST00000375375.3:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.693G>A
  hgvsp: ENST00000400661.3:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu233Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

1-19018364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018364
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018364
    reference: chr 1
allele count: 8
allele frequency: 6.96924819235125e-5
allele num: 114790
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.703G>A
  hgvsp: ENSP00000364524.3:p.Ala235Thr
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.703G>A
  hgvsp: ENSP00000403389.2:p.Ala235Thr
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.697G>A
  hgvsp: ENSP00000383502.3:p.Ala233Thr
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala235Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-19018375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018375
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018375
    reference: chr 1
allele count: 1
allele frequency: 8.630659555003193e-6
allele num: 115866
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.714G>A
  hgvsp: ENST00000375375.3:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.708G>A
  hgvsp: ENST00000400661.3:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.714G>A
  hgvsp: ENST00000420770.2:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48747
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg238Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

1-19018376-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018376
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018376
    reference: chr 1
allele count: 1
allele frequency: 8.632447644205037e-6
allele num: 115842
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.715A>G
  hgvsp: ENSP00000364524.3:p.Thr239Ala
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.715A>G
  hgvsp: ENSP00000403389.2:p.Thr239Ala
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.709A>G
  hgvsp: ENSP00000383502.3:p.Thr237Ala
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr239Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-19018384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018384
    reference: chr 1
allele count: 1
allele frequency: 8.617866560954171e-6
allele num: 116038
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.723C>T
  hgvsp: ENST00000375375.3:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.723C>T
  hgvsp: ENST00000420770.2:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.717C>T
  hgvsp: ENST00000400661.3:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr241Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-19018398-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018398
    reference: chr 1
allele count: 1
allele frequency: 8.636921110362578e-6
allele num: 115782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.731C>G
  hgvsp: ENSP00000383502.3:p.Thr244Ser
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.737C>G
  hgvsp: ENSP00000364524.3:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.737C>G
  hgvsp: ENSP00000403389.2:p.Thr246Ser
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr246Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

1-19018400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018400
    reference: chr 1
allele count: 1
allele frequency: 8.645134518293105e-6
allele num: 115672
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.739C>T
  hgvsp: ENSP00000364524.3:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.739C>T
  hgvsp: ENSP00000403389.2:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.733C>T
  hgvsp: ENSP00000383502.3:p.Arg245Cys
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg247Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-19018401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018401
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018401
    reference: chr 1
allele count: 2
allele frequency: 1.730672712483342e-5
allele num: 115562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.740G>A
  hgvsp: ENSP00000403389.2:p.Arg247His
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.734G>A
  hgvsp: ENSP00000383502.3:p.Arg245His
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.740G>A
  hgvsp: ENSP00000364524.3:p.Arg247His
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg247His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-19018402-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018402
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018402
    reference: chr 1
allele count: 1
allele frequency: 8.650668696690255e-6
allele num: 115598
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.741C>G
  hgvsp: ENST00000375375.3:c.741C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.741C>G
  hgvsp: ENST00000420770.2:c.741C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.735C>G
  hgvsp: ENST00000400661.3:c.735C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg247Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-19018402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018402
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018402
    reference: chr 1
allele count: 3
allele frequency: 2.595200609007076e-5
allele num: 115598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.735C>T
  hgvsp: ENST00000400661.3:c.735C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.741C>T
  hgvsp: ENST00000375375.3:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.741C>T
  hgvsp: ENST00000420770.2:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg247Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

1-19018403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018403
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018403
    reference: chr 1
allele count: 1
allele frequency: 8.653812869950501e-6
allele num: 115556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.742G>A
  hgvsp: ENSP00000403389.2:p.Glu248Lys
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.742G>A
  hgvsp: ENSP00000364524.3:p.Glu248Lys
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.736G>A
  hgvsp: ENSP00000383502.3:p.Glu246Lys
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu248Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-19018405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018405
    reference: chr 1
allele count: 9965
allele frequency: 8.615472402821966e-2
allele num: 115664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.738G>A
  hgvsp: ENST00000400661.3:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.744G>A
  hgvsp: ENST00000375375.3:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.744G>A
  hgvsp: ENST00000420770.2:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.25e1
  variant carriers: 1426
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 395
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 849
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 1175
genotype depth: GenotypeDepth
  all individuals: 33902
  bin: 2.25e1
  variant carriers: 1079
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.5e0
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 564
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 2.75e1
  variant carriers: 1443
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 1.25e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 587
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 468
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 41152
  bin: 6.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 6.75e1
  variant carriers: 47
hgvs: p.Glu248Glu
num of homozygotes: 563
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-19018414-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018414
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018414
    reference: chr 1
allele count: 1
allele frequency: 8.713837574067619e-6
allele num: 114760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.747G>T
  hgvsp: ENST00000400661.3:c.747G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.753G>T
  hgvsp: ENST00000375375.3:c.753G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.753G>T
  hgvsp: ENST00000420770.2:c.753G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala251Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-19018414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018414
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018414
    reference: chr 1
allele count: 1
allele frequency: 8.713837574067619e-6
allele num: 114760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.747G>A
  hgvsp: ENST00000400661.3:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.753G>A
  hgvsp: ENST00000420770.2:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.753G>A
  hgvsp: ENST00000375375.3:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala251Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

1-19018419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018419
    reference: chr 1
allele count: 7
allele frequency: 6.150926153738006e-5
allele num: 113804
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.758G>A
  hgvsp: ENSP00000364524.3:p.Arg253Lys
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.752G>A
  hgvsp: ENSP00000383502.3:p.Arg251Lys
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.758G>A
  hgvsp: ENSP00000403389.2:p.Arg253Lys
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32011
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg253Lys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

1-19018426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018426
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018426
    reference: chr 1
allele count: 3
allele frequency: 2.695030364008768e-5
allele num: 111316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.759G>A
  hgvsp: ENST00000400661.3:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.765G>A
  hgvsp: ENST00000375375.3:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.765G>A
  hgvsp: ENST00000420770.2:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29544
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys255Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-19018432-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018432
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018432
    reference: chr 1
allele count: 10796
allele frequency: 9.900590587285867e-2
allele num: 109044
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.771A>C
  hgvsp: ENST00000375375.3:c.771A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.765A>C
  hgvsp: ENST00000400661.3:c.765A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.771A>C
  hgvsp: ENST00000420770.2:c.771A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 1.25e1
  variant carriers: 576
genotype depth: GenotypeDepth
  all individuals: 27328
  bin: 2.25e1
  variant carriers: 1964
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 2.75e1
  variant carriers: 1815
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 871
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 7.5e0
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 1.75e1
  variant carriers: 1400
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 541
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 3.25e1
  variant carriers: 1318
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 9590
  bin: 9.75e1
  variant carriers: 9437
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 9400
  bin: 2.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 2.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 32662
  bin: 6.25e1
  variant carriers: 99
hgvs: p.Thr257Thr
num of homozygotes: 627
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-19018432-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018432
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018432
    reference: chr 1
allele count: 1
allele frequency: 9.170610028979127e-6
allele num: 109044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.771A>T
  hgvsp: ENST00000420770.2:c.771A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.771A>T
  hgvsp: ENST00000375375.3:c.771A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.765A>T
  hgvsp: ENST00000400661.3:c.765A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9590
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr257Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-19018436-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018436
    reference: chr 1
allele count: 1
allele frequency: 9.598034322570738e-6
allele num: 104188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.769G>T
  hgvsp: ENSP00000383502.3:p.Ala257Ser
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.775G>T
  hgvsp: ENSP00000364524.3:p.Ala259Ser
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.775G>T
  hgvsp: ENSP00000403389.2:p.Ala259Ser
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12159
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34781
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala259Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-19018438-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018438
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018438
    reference: chr 1
allele count: 609
allele frequency: 5.959137343927355e-3
allele num: 102196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.771G>A
  hgvsp: ENST00000400661.3:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.777G>A
  hgvsp: ENST00000375375.3:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.777G>A
  hgvsp: ENST00000420770.2:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 1.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 2.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24120
  bin: 2.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 1.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31801
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 589
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Ala259Ala
num of homozygotes: 14
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

1-19018438-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018438
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018438
    reference: chr 1
allele count: 5
allele frequency: 4.892559395671063e-5
allele num: 102196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.777G>T
  hgvsp: ENST00000420770.2:c.777G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.777G>T
  hgvsp: ENST00000375375.3:c.777G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.771G>T
  hgvsp: ENST00000400661.3:c.771G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24120
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31801
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Ala259Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-19018440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018440
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018440
    reference: chr 1
allele count: 2
allele frequency: 1.986926026744024e-5
allele num: 100658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.773G>A
  hgvsp: ENSP00000383502.3:p.Arg258His
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.779G>A
  hgvsp: ENSP00000403389.2:p.Arg260His
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.779G>A
  hgvsp: ENSP00000364524.3:p.Arg260His
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11655
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23132
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg260His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-19018459-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018459
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018459
    reference: chr 1
allele count: 1
allele frequency: 1.153721906871568e-5
allele num: 86676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.780+12C>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.786+12C>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.786+12C>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-19018463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018463
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018463
    reference: chr 1
allele count: 53
allele frequency: 6.404059932334462e-4
allele num: 82760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.780+16C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.786+16C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.786+16C>T
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23152
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28585
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11047
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

1-19018464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018464
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018464
    reference: chr 1
allele count: 4
allele frequency: 4.849072614862408e-5
allele num: 82490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.780+17G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.786+17G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.786+17G>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15955
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23201
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8219
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-19018465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018465
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018465
    reference: chr 1
allele count: 1
allele frequency: 1.214948729163629e-5
allele num: 82308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.780+18G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.786+18G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.786+18G>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-19018469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018469
    reference: chr 1
allele count: 11
allele frequency: 1.403705783267827e-4
allele num: 78364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.786+22C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.780+22C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.786+22C>T
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23613
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17101
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 524
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

1-19018470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018470
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018470
    reference: chr 1
allele count: 2
allele frequency: 2.59733513415236e-5
allele num: 77002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.780+23G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.786+23G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.786+23G>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23610
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5295
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-19018483-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018483
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018483
    reference: chr 1
allele count: 3
allele frequency: 4.461895413171515e-5
allele num: 67236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.786+36T>C
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.786+36T>C
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.780+36T>C
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-19018494-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19018494
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19018494
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 58870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.780+47T>C
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.786+47T>C
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.786+47T>C
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 23950
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-19027109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19027109
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19027109
    reference: chr 1
allele count: 91
allele frequency: 8.567770120137085e-4
allele num: 106212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.781-38G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.787-38G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.787-38G>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14862
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-19027112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19027112
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19027112
    reference: chr 1
allele count: 1
allele frequency: 9.409993413004611e-6
allele num: 106270
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.787-35C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.787-35C>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.781-35C>T
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6649
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-19027113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19027113
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19027113
    reference: chr 1
allele count: 6
allele frequency: 5.641536754611956e-5
allele num: 106354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.781-34G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.787-34G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.787-34G>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10815
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-19027113-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19027113
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19027113
    reference: chr 1
allele count: 2
allele frequency: 1.880512251537319e-5
allele num: 106354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.787-34G>C
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.787-34G>C
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.781-34G>C
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10815
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-19027115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19027115
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19027115
    reference: chr 1
allele count: 2
allele frequency: 1.878922250197287e-5
allele num: 106444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.781-32G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.787-32G>A
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.787-32G>A
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-19027118-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19027118
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19027118
    reference: chr 1
allele count: 16
allele frequency: 1.501332432533874e-4
allele num: 106572
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.787-29G>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.787-29G>T
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.781-29G>T
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2721
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-19027147-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19027147
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19027147
    reference: chr 1
allele count: 1
allele frequency: 9.214042200313277e-6
allele num: 108530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.781G>T
  hgvsp: ENSP00000383502.3:p.Val261Phe
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.787G>T
  hgvsp: ENSP00000364524.3:p.Val263Phe
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.787G>T
  hgvsp: ENSP00000403389.2:p.Val263Phe
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6730
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10797
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val263Phe
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

1-19027163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19027163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19027163
    reference: chr 1
allele count: 3
allele frequency: 2.706311117526071e-5
allele num: 110852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000403389
  ensembl transcript: ENST00000420770
  gene symbol: PAX7
  hgvsc: ENST00000420770.2:c.803G>A
  hgvsp: ENSP00000403389.2:p.Arg268His
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000364524
  ensembl transcript: ENST00000375375
  gene symbol: PAX7
  hgvsc: ENST00000375375.3:c.803G>A
  hgvsp: ENSP00000364524.3:p.Arg268His
  variant of: http://identifiers.org/hgnc/8621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000009709
  ensembl protein: ENSP00000383502
  ensembl transcript: ENST00000400661
  gene symbol: PAX7
  hgvsc: ENST00000400661.3:c.797G>A
  hgvsp: ENSP00000383502.3:p.Arg266His
  variant of: http://identifiers.org/hgnc/8621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10791
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 6835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg268His
num of homozygotes: 0
population: Latino
reference allele: G

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509388395822013e-5
allele num: 66252
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.726e0

DP
type: SiteQuality
SIO_000300: 3.63767e6

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.211e0

FS
type: SiteQuality
SIO_000300: 5.444e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 685
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15918
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.069e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.21e1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 3.634333e6

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
all individuals: 710
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15762
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51336299524804e-5
allele num: 66078
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 3.629021e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.069e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.418e1

GenotypeQuality
all individuals: 1136
bin: 3.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515105602860519e-5
allele num: 66002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

DP
type: SiteQuality
SIO_000300: 3.628922e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.803073967339097e-4
allele num: 2082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.257e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 3.91124e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.418439716312057e-4
allele num: 7050
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

FS
type: SiteQuality
SIO_000300: 7.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.83e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 4.08833e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.522e0

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 329
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.554278416347382e-4
allele num: 7830
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.636e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.623e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.86e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 4.54285e5

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.254075746175069e-4
allele num: 7974
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.822e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.67e-2

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.48e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.77105e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

FS
type: SiteQuality
SIO_000300: 9.528e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.1e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.121327651939897e-4
allele num: 8918
num of homozygotes: 0

African
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allele frequency: 4.074979625101874e-4
allele num: 2454
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 872
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 5.147210212065061e-4
allele num: 9714
num of homozygotes: 0

Latino
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allele frequency: 1.515151515151515e-3
allele num: 660
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 968
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 214
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.728e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 5.22868e5

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 468
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 5.38447e5

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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FS
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BaseQRankSum
type: SiteQuality
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QD
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SIO_000300: 8.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1100
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.5486160397445e-4
allele num: 2818
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 9.206407659731172e-5
allele num: 10862
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 230
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8220
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

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

DP
type: SiteQuality
SIO_000300: 5.47294e5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 1.191327138432213e-4
allele num: 8394
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.987220447284345e-5
allele num: 12520
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 250
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 16
allele frequency: 4.947433518862091e-3
allele num: 3234
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1426
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13632
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.741258741258741e-4
allele num: 1144
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 270
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8492
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FS
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1482
num of homozygotes: 0

East Asian
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allele frequency: 5.88235294117647e-4
allele num: 1700
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8732
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European (Non-Finnish)
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allele count: 1
allele frequency: 6.241418050181001e-5
allele num: 16022
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 10

East Asian
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allele count: 7
allele frequency: 3.90625e-3
allele num: 1792
num of homozygotes: 0

African
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allele count: 41
allele frequency: 1.089266737513284e-2
allele num: 3764
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 1.861042183622829e-3
allele num: 1612
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 349
allele frequency: 3.882091212458287e-2
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Other
type: Population
allele count: 3
allele frequency: 9.67741935483871e-3
allele num: 310
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 3.563368571089203e-4
allele num: 16838
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 1.084363478638039e-4
allele num: 9222
num of homozygotes: 0

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

FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

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 count: 1
allele frequency: 4.671587405400355e-5
allele num: 21406
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 352
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South Asian
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BaseQRankSum
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QD
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MQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

East Asian
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Other
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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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Latino
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allele frequency: 2.024291497975709e-3
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European (Non-Finnish)
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allele frequency: 4.45632798573975e-5
allele num: 22440
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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Other
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allele frequency: 0.0e0
allele num: 372
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European (Non-Finnish)
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allele frequency: 2.091700133868809e-4
allele num: 23904
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 2.90309469894908e-5
allele num: 34446
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 500
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10990
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2692
num of homozygotes: 0

East Asian
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allele count: 7
allele frequency: 1.696558410082404e-3
allele num: 4126
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Latino
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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: 0.0e0
allele num: 35904
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 528
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2890
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African
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allele frequency: 1.506024096385542e-4
allele num: 6640
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Non-Finnish)
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allele count: 45
allele frequency: 1.142479943129887e-3
allele num: 39388
num of homozygotes: 0

South Asian
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allele frequency: 1.759943681802182e-4
allele num: 11364
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 3.658982802780827e-4
allele num: 5466
num of homozygotes: 0

East Asian
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allele frequency: 2.157031924072476e-4
allele num: 4636
num of homozygotes: 0

African
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allele count: 5
allele frequency: 7.32493407559332e-4
allele num: 6826
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3028
num of homozygotes: 0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

DP
type: SiteQuality
SIO_000300: 9.55633e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

Latino
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allele frequency: 1.644195988161789e-4
allele num: 6082
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 7112
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41952
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3252
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47044
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7322
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12402
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3636
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.063834e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.882293888819174e-4
allele num: 47814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3710
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African
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allele count: 55
allele frequency: 7.009941371399439e-3
allele num: 7846
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East Asian
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allele count: 20
allele frequency: 3.399048266485384e-3
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Latino
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allele count: 4
allele frequency: 5.336179295624333e-4
allele num: 7496
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Other
type: Population
allele count: 4
allele frequency: 6.211180124223602e-3
allele num: 644
num of homozygotes: 0

South Asian
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allele count: 496
allele frequency: 3.898758056909291e-2
allele num: 12722
num of homozygotes: 12

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

DP
type: SiteQuality
SIO_000300: 1.086067e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13000
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3862
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8040
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.016454266817229e-5
allele num: 49592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.105966e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4118
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52072
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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East Asian
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Other
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allele num: 678
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South Asian
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allele count: 1
allele frequency: 7.464914899970141e-5
allele num: 13396
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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: 0.0e0
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Other
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South Asian
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allele frequency: 2.50208507089241e-3
allele num: 14388
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQRankSum
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DP
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VQSLOD
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GenotypeQuality
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variant carriers: 0

Other
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Latino
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East Asian
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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GenotypeQuality
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African
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European (Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.704971697469822e-5
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East Asian
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allele num: 7652
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South Asian
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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DP
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MQ
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
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African
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Other
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Latino
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South Asian
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European (Finnish)
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East Asian
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele num: 772
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European (Non-Finnish)
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allele frequency: 3.380662609871535e-5
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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South Asian
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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South 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: 3.330336030905518e-5
allele num: 60054
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European (Finnish)
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allele frequency: 0.0e0
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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QD
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.264222503160556e-4
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.06700810926163e-4
allele num: 9372
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Other
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European (Non-Finnish)
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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allele frequency: 8.213552361396304e-4
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Latino
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QD
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FS
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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Other
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African
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Latino
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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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allele frequency: 1.182312603452353e-4
allele num: 8458
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 8.904719501335708e-5
allele num: 11230
num of homozygotes: 0

European (Non-Finnish)
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East Asian
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Other
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South Asian
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African
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European (Finnish)
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 63974
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East Asian
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European (Finnish)
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African
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Other
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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Latino
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South Asian
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Other
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African
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European (Finnish)
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East Asian
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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African
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ClippingRankSum
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ReadPosRankSum
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FS
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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Other
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East Asian
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South Asian
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DP
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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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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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East Asian
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South Asian
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Other
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Latino
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Other
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South Asian
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European (Finnish)
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QD
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FS
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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African
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Other
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South Asian
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East Asian
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allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.995e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 1.373491e6

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

FS
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

GenotypeQuality
all individuals: 9334
bin: 9.75e1
variant carriers: 8986

Other
type: Population
allele count: 81
allele frequency: 9.688995215311005e-2
allele num: 836
num of homozygotes: 4

East Asian
type: Population
allele count: 1958
allele frequency: 2.31715976331361e-1
allele num: 8450
num of homozygotes: 189

European (Finnish)
type: Population
allele count: 495
allele frequency: 8.587786259541985e-2
allele num: 5764
num of homozygotes: 15

African
type: Population
allele count: 150
allele frequency: 1.529051987767584e-2
allele num: 9810
num of homozygotes: 1

Latino
type: Population
allele count: 1463
allele frequency: 1.307417336907954e-1
allele num: 11190
num of homozygotes: 103

European (Non-Finnish)
type: Population
allele count: 3955
allele frequency: 6.208596276412044e-2
allele num: 63702
num of homozygotes: 139

South Asian
type: Population
allele count: 1863
allele frequency: 1.170814479638009e-1
allele num: 15912
num of homozygotes: 112

FS
type: SiteQuality
SIO_000300: 2.688e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.41e-2

QD
type: SiteQuality
SIO_000300: 1.305e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

DP
type: SiteQuality
SIO_000300: 1.53959e6

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeQuality
all individuals: 43009
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582979801177737e-5
allele num: 63172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

FS
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.152e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

DP
type: SiteQuality
SIO_000300: 1.433773e6

GenotypeQuality
all individuals: 730
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.025220422390814e-4
allele num: 9754
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.433773e6

QD
type: SiteQuality
SIO_000300: 1.152e1

GenotypeQuality
all individuals: 41522
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.460871781799643e-4
allele num: 15692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.03e-1

DP
type: SiteQuality
SIO_000300: 1.416299e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
all individuals: 1162
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.905006376508289e-5
allele num: 61162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.372867e6

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

FS
type: SiteQuality
SIO_000300: 8.89e-1

QD
type: SiteQuality
SIO_000300: 1.004e1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.917e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

GenotypeQuality
all individuals: 2073
bin: 6.75e1
variant carriers: 71

Other
type: Population
allele count: 86
allele frequency: 1.064356435643564e-1
allele num: 808
num of homozygotes: 4

African
type: Population
allele count: 554
allele frequency: 5.886102847428815e-2
allele num: 9412
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 3916
allele frequency: 6.528842947649216e-2
allele num: 59980
num of homozygotes: 137

South Asian
type: Population
allele count: 2352
allele frequency: 1.549611279483463e-1
allele num: 15178
num of homozygotes: 180

European (Finnish)
type: Population
allele count: 470
allele frequency: 8.894776684330052e-2
allele num: 5284
num of homozygotes: 11

Latino
type: Population
allele count: 1464
allele frequency: 1.403374233128834e-1
allele num: 10432
num of homozygotes: 97

East Asian
type: Population
allele count: 1954
allele frequency: 2.457861635220126e-1
allele num: 7950
num of homozygotes: 189

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.943e0

FS
type: SiteQuality
SIO_000300: 3.291e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.42e-2

DP
type: SiteQuality
SIO_000300: 1.347689e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
all individuals: 449
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.667222407469156e-5
allele num: 59980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.42e-2

FS
type: SiteQuality
SIO_000300: 3.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 1.347689e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.943e0

GenotypeQuality
all individuals: 392
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4960
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728309713100588e-5
allele num: 57860
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.04e-2

FS
type: SiteQuality
SIO_000300: 1.906e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.195082e6

MQRankSum
type: SiteQuality
SIO_000300: -1.385e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

GenotypeQuality
all individuals: 793
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 4.278990158322636e-4
allele num: 9348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.292607223476298e-4
allele num: 56704
num of homozygotes: 0

Other
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allele count: 4
allele frequency: 5.390835579514825e-3
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East Asian
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allele count: 21
allele frequency: 2.973661852166525e-3
allele num: 7062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

African
type: Population
allele count: 60
allele frequency: 6.635700066357001e-3
allele num: 9042
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South Asian
type: Population
allele count: 507
allele frequency: 3.516437786100707e-2
allele num: 14418
num of homozygotes: 14

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.162163e6

QD
type: SiteQuality
SIO_000300: 1.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.080147267063155e-4
allele num: 7062
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
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MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.162163e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.785522979680749e-5
allele num: 56006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9148
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.445504481063891e-4
allele num: 6918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 7.777e0

DP
type: SiteQuality
SIO_000300: 1.132616e6

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.504e-1

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083680613435573e-5
allele num: 47992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.452e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.688e0

DP
type: SiteQuality
SIO_000300: 8.88734e5

FS
type: SiteQuality
SIO_000300: 1.6245e1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.086e0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 34
allele frequency: 8.673469387755102e-3
allele num: 3920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
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African
type: Population
allele count: 1
allele frequency: 1.28633907898122e-4
allele num: 7774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 3.929616207483736e-4
allele num: 45806
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

DP
type: SiteQuality
SIO_000300: 8.41522e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.014e0

QD
type: SiteQuality
SIO_000300: 1.325e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.383465567877964e-5
allele num: 45626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.889537145079736e-4
allele num: 5142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3874
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.522e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 8.38253e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.92e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.195293291183702e-5
allele num: 45552
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 8.2963e5

QD
type: SiteQuality
SIO_000300: 1.085e1

FS
type: SiteQuality
SIO_000300: 1.362e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4732
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.088307440719542e-4
allele num: 12230
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.656042496679947e-4
allele num: 7530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.225517782185525e-5
allele num: 43358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.90431e5

VQSLOD
type: SiteQuality
SIO_000300: 5.28e0

QD
type: SiteQuality
SIO_000300: 1.202e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

GenotypeQuality
all individuals: 251
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7438
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.267195767195767e-5
allele num: 12096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.350397217129695e-5
allele num: 42546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.363e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

DP
type: SiteQuality
SIO_000300: 7.79165e5

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
all individuals: 209
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.699492495410863e-5
allele num: 37044
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.396654074473826e-4
allele num: 3706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3210
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

DP
type: SiteQuality
SIO_000300: 6.85643e5

QD
type: SiteQuality
SIO_000300: 1.199e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
all individuals: 176
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

South Asian
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: 2796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3000
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3868
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.881e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.304e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 6.77e0

DP
type: SiteQuality
SIO_000300: 6.46275e5

GenotypeQuality
all individuals: 1385
bin: 8.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9032
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.75530981218185e-4
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 86
allele frequency: 9.686866411353908e-3
allele num: 8878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.908055755513383e-5
allele num: 61124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.927293e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.35e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.765e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 1.205e0

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

GenotypeQuality
all individuals: 3072
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63569746139754e-5
allele num: 61136
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.924093e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.334e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

FS
type: SiteQuality
SIO_000300: 5.464e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.632964718272775e-4
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61176
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.242152466367713e-4
allele num: 8920
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.102049812651532e-4
allele num: 9074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 6.49e0

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

DP
type: SiteQuality
SIO_000300: 1.926434e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8920
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.376990729736154e-4
allele num: 8414
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9074
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11394
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

DP
type: SiteQuality
SIO_000300: 1.926434e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

FS
type: SiteQuality
SIO_000300: 6.49e0

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

GenotypeQuality
all individuals: 3072
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.266586090876425e-5
allele num: 61226
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.658e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.928593e6

FS
type: SiteQuality
SIO_000300: 8.721e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

East Asian
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allele count: 16
allele frequency: 1.901140684410646e-3
allele num: 8416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61276
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.017e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 1.904e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

DP
type: SiteQuality
SIO_000300: 1.931027e6

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

Other
type: Population
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: 6610
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.616031027795734e-5
allele num: 61880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.581e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 1.0897e1

DP
type: SiteQuality
SIO_000300: 1.951452e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0